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Gene: Col11a1 MGI:88446

Gene Summary

Name:

collagen, type XI, alpha 1

Synonyms:

C530001D20Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Col11a1^em1(IMPC)Bay	HOM	Early adult	0.00
protruding tongue	Col11a1^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal tail morphology	Col11a1^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal facial morphology	Col11a1^em1(IMPC)Bay	HOM	E18.5	0.00
cleft palate	Col11a1^em1(IMPC)Bay	HOM	E18.5	0.00
increased heart left ventricle size	Col11a1^em1(IMPC)Bay	HET	Early adult	3.26×10^-05
abnormal limb morphology	Col11a1^em1(IMPC)Bay	HOM	E18.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

VIP of right fundus

17 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of left fundus

17 Images

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Eye Morphology

VIP of left eye

17 Images

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Eye Morphology

VIP of right eye

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Col11a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Col11a1 (8 diseases)
Human diseases predicted to be associated with Col11a1 (1968 diseases)

The table below shows human diseases associated to Col11a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Sensorineural hearing...	ORPHA:440354
Fibrochondrogenesis	Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal d...	ORPHA:2021
Fibrochondrogenesis 1	Low-set ears, Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l...	OMIM:228520
Marshall Syndrome	Thick upper lip vermilion, Genu valgum, Micrognathia, Sensorineural hearing impairment, High pala...	ORPHA:560
Marshall Syndrome	Low-set ears, Radial bowing, Recurrent otitis media, Thick upper lip vermilion, Micrognathia, Sen...	OMIM:154780
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar f...	OMIM:604841
Stickler Syndrome Type 2	Cleft palate	ORPHA:90654
Deafness, Autosomal Dominant 37	Sensorineural hearing impairment	OMIM:618533

The table below shows human diseases predicted to be associated to Col11a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Kienbock Disease	Limitation of joint mobility, Abnormality of the wrist, Osteochondritis dissecans, Osteoarthritis...	ORPHA:97332
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Osteoarthritis Susceptibility 2	Heberden's node, Osteoarthritis	OMIM:140600
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Ankle pain, Chondritis, Osteochondritis dissecans...	ORPHA:563991
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J...	ORPHA:1416
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Coxa valga, Arthritis	OMIM:615612
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb, Osteoarthritis	ORPHA:435804
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Familial Avascular Necrosis Of Femoral Head	Flattened femoral head, Hip osteoarthritis, Abnormal femoral neck/head morphology, Limited hip mo...	ORPHA:86820
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Legg-Calvé-Perthes Disease	Avascular necrosis, Joint dislocation, Delayed skeletal maturation, Cartilage destruction	ORPHA:2380
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoarthritis	OMIM:271600
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Ankle pain, Joint stiffness, Avasc...	ORPHA:93308
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of...	ORPHA:566943
Atelosteogenesis, Type Ii	Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap...	OMIM:256050
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Glycoprotein Storage Disease	Gout	OMIM:232900
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node	OMIM:604864
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Micrognathia, Bowing of the long bones, Abnor...	ORPHA:628
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Joint stiffness, Abnormal femur morphology, Genu valgum, Accele...	ORPHA:1822
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Generalized morning stiffness, Constrictive pericarditi...	OMIM:208250
Dysspondyloenchondromatosis	Joint dislocation, Delayed skeletal maturation, Genu valgum, Metaphyseal enchondromatosis, Genera...	ORPHA:85198
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Achondrogenesis Type 2	Hypoplastic ilia, Cardiorespiratory arrest, Micromelia, Hearing impairment, Absent vertebral body...	ORPHA:93296
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormality of the epiphysis of the femoral head, Abnormal ossification invol...	ORPHA:2114
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Abnormality of the epiphyses...	ORPHA:166002
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormal rib morphology, Micrognathia, Abnormal antihelix morpholo...	ORPHA:2145
Raine Syndrome	Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow ...	OMIM:259775
Metatropic Dysplasia	Depressed nasal bridge, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Mic...	ORPHA:2635
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ...	OMIM:600969
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Short 1st metacarpal, Delayed skeletal maturation, Joint hypermobility, Short...	ORPHA:63442
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnorm...	OMIM:200600
Marshall-Smith Syndrome	Optic atrophy, Choanal atresia, Conductive hearing impairment, Slender long bone, Retrognathia, A...	ORPHA:561
Syngnathia	Cleft palate	OMIM:119550
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ankle pain, Limited hip ...	OMIM:132400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Low-set ears, Metaphyseal cupping, Depressed nasal bridge, Micro...	OMIM:613320
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar...	OMIM:118651
Acrodysostosis	Hearing impairment, Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morpholo...	ORPHA:950
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Short thumb, Broad hallux, Premature osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Autosomal Recessive Omodysplasia	Low-set ears, Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Frontal bossing, Sho...	ORPHA:93329
Epiphyseal Dysplasia, Multiple, 6	Flat distal femoral epiphysis, Irregular distal femoral epiphysis, Flat capital femoral epiphysis...	OMIM:614135
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Odontochondrodysplasia	Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Del...	ORPHA:166272
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Progressive Osseous Heteroplasia	Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly, Osteoarthriti...	ORPHA:2762
Hypochondroplasia	Micromelia, Short toe, Abnormal femur morphology, Joint hypermobility, Bowing of the long bones, ...	ORPHA:429
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge...	OMIM:311895
Epiphyseal Dysplasia, Multiple, 5	Metaphyseal irregularity, Broad femoral neck, Hypoplasia of the capital femoral epiphysis, Premat...	OMIM:607078
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Open mouth, Protruding tongue, Sensorineural hearing impairment, Everted lower lip ...	OMIM:212066
Multiple Epiphyseal Dysplasia Type 5	Abnormality of the epiphyses of the feet, Ankle pain, Premature osteoarthritis, Avascular necrosi...	ORPHA:93311
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis	ORPHA:93283
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Calvarial skull defect, Micrognathia, ...	ORPHA:1426
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Hip osteoarthritis, Broad femoral neck, Wide distal femoral metaphysis, L...	ORPHA:99642
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor...	ORPHA:1350
Blomstrand Lethal Chondrodysplasia	Low-set ears, Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protru...	ORPHA:50945
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Low-set, posteriorly rotated ears, Antev...	ORPHA:1035
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar flattening...	OMIM:215045
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Ulnar Hemimelia	Abnormal upper limb bone morphology, Short forearm, Radial bowing, Abnormality of the humeroulnar...	ORPHA:93320
Achondrogenesis Type 1A	Micromelia, Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Mult...	ORPHA:93299
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Bone pain	OMIM:616833
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Tali...	ORPHA:93298
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u...	ORPHA:2496
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverte...	ORPHA:217340
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Li...	ORPHA:93351
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Hand clenching, Abnormal anterior horn cell morphology, Retrognathia, Micrognathia,...	OMIM:611890
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Talipes...	ORPHA:1865
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis ...	ORPHA:1842
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Hypoplastic ilia, Metaphyseal cupping, Rhizomelia, Depressed nasal bridge, Radial b...	OMIM:151210
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Sensorineural hearing...	ORPHA:440354
Developmental And Epileptic Encephalopathy 80	Low-set ears, Short distal phalanx of finger, Wide nasal bridge, Hearing impairment, Long philtru...	OMIM:618580
Distal Deletion 17Q	Optic atrophy, Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Low-...	ORPHA:1597
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Limitation of joint mobility, Metaphyseal spurs, Short femoral n...	ORPHA:166011
3M Syndrome	Thin ribs, Everted lower lip vermilion, Hypoplastic ischia, Bulbous nose, Horizontal ribs, Protru...	ORPHA:2616
Epiphyseal Dysplasia, Multiple, 2	Tibial torsion, Osteochondritis dissecans, Knee osteoarthritis, Short palm, Knee pain, Genu varum...	OMIM:600204
Acrocallosal Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Hearing impairment, ...	OMIM:200990
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Kyphomelic Dysplasia	Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate ribs, Bowing of...	ORPHA:1801
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Micromelia, Heari...	ORPHA:1508
Spondyloepimetaphyseal Dysplasia, Irapa Type	Capitate-hamate fusion, Broad femoral neck, Upper limb undergrowth, Genu valgum, Limited elbow ex...	OMIM:271650
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Depressed nasal bridge, Mandibular prognathia, Broad thumb, Prominent fingertip pad...	OMIM:617804
Apert Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Sensorineural hearing impairment, Aplasia/Hypopla...	ORPHA:87
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Skull asymmetry, Anteverted nares, Protruding tongue, Death in childho...	OMIM:612938
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Fibrochondrogenesis	Low-set ears, Depressed nasal bridge, Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal d...	ORPHA:2021
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal...	OMIM:208230
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Micromelia, Respiratory insufficiency, Calvarial skull defect, Micrognathia, M...	OMIM:224410
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Depressed nasal bridge, Micromelia, Long philtrum, Prominent occi...	OMIM:617895
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal...	ORPHA:175
Kleefstra Syndrome 1	Natal tooth, Hearing impairment, Persistence of primary teeth, Anteverted nares, Malar flattening...	OMIM:610253
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impa...	ORPHA:3258
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Sho...	OMIM:241800
Atelosteogenesis Type Ii	Low-set ears, Wide nasal base, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Bilater...	ORPHA:56304
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac...	OMIM:255800
Thanatophoric Dysplasia	Low-set ears, Abnormal ilium morphology, Depressed nasal bridge, Micromelia, Hearing impairment, ...	ORPHA:2655
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De...	ORPHA:1452
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Low-set, posteriorly rotated ears, Reduced bone mineral d...	ORPHA:2370
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Frontal bossin...	OMIM:187601
Glutamine Deficiency, Congenital	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Micromeli...	OMIM:610015
Image Syndrome	Low-set ears, Depressed nasal bridge, Micromelia, Metaphyseal dysplasia, Frontal bossing	ORPHA:85173
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acetabular roof,...	ORPHA:163649
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Fr...	ORPHA:1488
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Protruding tongue, Dea...	OMIM:214100
Clark-Baraitser Syndrome	Low-set ears, Depressed nasal bridge, Sandal gap, Clinodactyly, Downturned corners of mouth, Larg...	OMIM:617752
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Achondrogenesis, Type Ib	Hypoplastic ilia, Micromelia, Respiratory insufficiency, Absent or minimally ossified vertebral b...	OMIM:600972
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short toe, Hearing impairment, Short nose, Genu valg...	OMIM:614078
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Low-set ears, Broad thumb, Dental crowding, Long philtrum, Anteverted nares, Mi...	ORPHA:251019
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,...	ORPHA:2097
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis, Avascular necrosis	ORPHA:1345
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
C Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anter...	OMIM:211750
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Gingival overg...	ORPHA:1832
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Diastrophic Dysplasia	Laryngotracheal stenosis, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Hearing impa...	OMIM:222600
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Premature osteoarthritis, Dys...	ORPHA:93284
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Anterior rib c...	OMIM:271665
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Non-Distal Duplication 10Q	Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermobility, Bra...	ORPHA:1695
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Depressed nasal bridge, Contractures of the large joints, Bulbous nose, Prominent nasal bridge, A...	ORPHA:324410
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotat...	ORPHA:1388
Pierpont Syndrome	Short toe, Prominent fingertip pads, Hearing impairment, Short finger, Widely spaced teeth, Malar...	ORPHA:487825
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Ankle pain, Recurrent otitis media, Wrist hypermobili...	OMIM:601492
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu ...	ORPHA:53
Platyspondylic Dysplasia, Torrance Type	Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depresse...	ORPHA:85166
Pierpont Syndrome	Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Hearing impairment, Large fle...	OMIM:602342
Craniofrontonasal Dysplasia	Finger syndactyly, Sensorineural hearing impairment, High palate, Depressed nasal ridge, Plagioce...	ORPHA:1520
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, Micrognathia, Flat occiput, High, narrow palate, Coarse metaphyseal trabecularizati...	ORPHA:2780
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Fron...	ORPHA:932
Eng-Strom Syndrome	Brachydactyly, Arthritis, Camptodactyly of finger	ORPHA:1937
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Depressed nasal bridge, Toe syndactyly, Long philtrum, Anteverted nares, Micrognath...	ORPHA:171839
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Broad nas...	ORPHA:1784
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Low-set ears, Optic atrophy, Small hand, Plagiocephaly, Conductive hearing impairment, Downturned...	OMIM:618672
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ...	OMIM:602849
4Q21 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Small hand, Toe syndactyly, Depressed nasal bridge, M...	ORPHA:238750
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow ex...	OMIM:180870
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo...	ORPHA:3104
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic...	ORPHA:969
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Posterior rib cupping, Irregular epiphyses, Small epiphyses, Femor...	OMIM:608728
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Plagiocephaly, Dental crowding, Broad nasal tip, Wide mouth, Protruding tongue...	OMIM:618106
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Neonatal respiratory distress, Microretrognathia, Clinodactyly of the 2nd...	OMIM:618870
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Delayed skeletal maturation, Flared metaphysis, F...	OMIM:602111
Ring Chromosome 22 Syndrome	Wide nasal base, Bulbous nose, Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilio...	ORPHA:1446
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Conductive hearing imp...	OMIM:135100
Adenylosuccinate Lyase Deficiency	Low-set ears, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Brachyc...	ORPHA:46
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Narrow nasal bridge, Hearing ...	ORPHA:2511
Neuropathy, Congenital Hypomyelinating, 3	Low-set ears, Hand clenching, Narrow palate, Decreased motor nerve conduction velocity, Hearing i...	OMIM:618186
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Depressed nasal bridge, Toe syndactyly, Large earlobe, Elbow flexion contracture, Ant...	OMIM:616809
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Depressed nasal bridge, Short finger, Hyperextensibility of the finger joints,...	OMIM:313420
Ring Chromosome 8 Syndrome	Deviation of finger, Anteverted nares, Abnormal palate morphology, Round ear, Frontal bossing, Sh...	ORPHA:1450
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Dep...	OMIM:613849
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Limitation of joint mobility, Micromelia, Hearing impairment, Frontal bos...	ORPHA:93274
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Micrognathia, Decreased skull ossifi...	OMIM:616897
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Chromosome 3Pter-P25 Deletion Syndrome	Low-set ears, Hearing impairment, Overlapping toe, Micrognathia, Anal atresia, High palate, Flat ...	OMIM:613792
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Small hand, Toe syndactyly, Broad nasal tip, Hearing impairment, Retrogna...	OMIM:300882
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Microg...	OMIM:224400
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Wide nasal bridge, Broad distal phalanx of finger, Depressed nasal bridge, Dental c...	OMIM:615761
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor...	ORPHA:3121
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Low-se...	ORPHA:83
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Low-set ears, Depressed nasal bridge, Neonatal respiratory distress, Tracheomalacia, Anteverted n...	OMIM:618797
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Depressed nasal bridge, Micromelia, Hearing impairment, Frontal bossing, Respir...	ORPHA:1860
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Optic atrophy, Hearing impairment, Thickened calvaria, Brachycephaly, Craniosynostosis...	ORPHA:178377
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Femoral bowing, Tibial bowing, Knee osteoarthritis, Short lower limbs, Metaphy...	ORPHA:93356
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm	ORPHA:168555
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Retrognathia, Underdeveloped nasal alae, Large fleshy ears, Micrognathia, Decreased...	OMIM:263210
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Brachydactyly, Metacarpal synostosis, Hearing impairment	ORPHA:35099
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Open b...	ORPHA:794
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Depressed nasal bridge, Low-set, posteriorly rotate...	ORPHA:1387
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short...	ORPHA:439822
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Narrow m...	OMIM:615834
Acrocephalopolydactyly	Depressed nasal ridge, Oxycephaly, Limb undergrowth, Brachydactyly, Short long bone, Short nose, ...	ORPHA:221054
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhi...	OMIM:300863
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Neonatal asphyxia, Retrognathia, Respiratory insufficiency, Overlapping fingers, Mi...	OMIM:608779
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl...	OMIM:177170
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Abnormal metacarpal morphology, Osteoarthritis	ORPHA:166100
Pyknoachondrogenesis	Low-set ears, Craniofacial hyperostosis, Abnormal intramembranous ossification, Depressed nasal r...	ORPHA:3003
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Abnormality of the dentition, Rachitic rosary, ...	OMIM:241500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormal meta...	ORPHA:85408
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Agenesis of perman...	OMIM:614091
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Choanal atresia, Wide nasal bridge, Abnormal lip morphology, Aplasia/Hypoplasia of ...	ORPHA:2759
Aminopterin Syndrome Sine Aminopterin	Low-set ears, Joint contracture of the hand, Short thumb, Clinodactyly, Micrognathia, Oligodontia...	OMIM:600325
Desmosterolosis	Low-set ears, Bifid uvula, Depressed nasal bridge, Micromelia, Abnormal earlobe morphology, Retro...	ORPHA:35107
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor...	ORPHA:1327
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Low-set, posteriorly rot...	ORPHA:261120
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm...	ORPHA:63446
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hy...	ORPHA:2636
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Low-set ears, Osteopenia, Plagiocephaly, Bulbous nose, Prominent nose, Anteverted nares, Open mou...	OMIM:616801
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Respira...	ORPHA:93262
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Clinodactyly, Protruding tongue, Sensorineural hearing impairment, Absent frontal s...	OMIM:301040
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Wide nasal bridge, Carious teeth,...	OMIM:277440
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Macrodontia, High palate, Short foot, Short nose	OMIM:300577
Kyphomelic Dysplasia	Low-set ears, Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Ant...	OMIM:211350
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Neonatal respiratory distress, Coarse metaphyseal trabecularization, Ante...	OMIM:618961
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Low-set ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnormal epiphysis morpholog...	ORPHA:2637
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Advanced ossific...	OMIM:251450
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, M...	ORPHA:2753
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ...	OMIM:200610
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Camptodactyly of finger, Respiratory insufficiency, Abnormal motor nerve c...	OMIM:614399
Osteogenesis Imperfecta, Type X	Thin ribs, Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Pyloric stenosis, Micromelia, Broad...	OMIM:613848
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Retrognathia, Camptodactyly of finger, Low-set, posteriorly rotate...	ORPHA:2631
Pontocerebellar Hypoplasia, Type 1C	Tongue fasciculations, Hearing impairment, Respiratory insufficiency, Death in childhood, Joint c...	OMIM:616081
Hydrolethalus	Low-set ears, Bifid uvula, Gingival cleft, Micromelia, Retrognathia, Unilateral cleft lip, Low-se...	ORPHA:2189
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Joint stiffness, Gingival overgrowth, Narrow mouth, Protruding tongue, Hypoplastic...	OMIM:230600
Weiss-Kruszka Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Exaggerated cupid's bow, Prominen...	ORPHA:502430
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Low-set, posteriorly rotated ears, Joint hypermobility, Decreased calvarial ossificat...	ORPHA:2772
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Sandestig-Stefanova Syndrome	Low-set ears, Wide nasal bridge, Clinodactyly, Retrognathia, Trigonocephaly, Underdeveloped tragu...	OMIM:618804
Potocki-Shaffer Syndrome	Wide nasal bridge, Parietal foramina, Downturned corners of mouth, Underdeveloped nasal alae, Tur...	OMIM:601224
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Premature osteoarthritis, Abnormal hand morphology, ...	ORPHA:93307
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Pfeiffer Syndrome Type 1	Low-set ears, Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing imp...	ORPHA:93258
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Hearing impairment, Limitation of joint mobility, Anodontia, Bowing o...	ORPHA:90650
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac...	ORPHA:776
Fibrochondrogenesis 1	Low-set ears, Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad l...	OMIM:228520
Larsen-Like Syndrome	Low-set ears, Conductive hearing impairment, Dental malocclusion, Recurrent otitis media, Radial ...	OMIM:608545
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malar fl...	OMIM:242860
Gorham-Stout Disease	Abnormal calvaria morphology, Osteopenia, Abnormal facial skeleton morphology, Hearing impairment...	ORPHA:73
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Shor...	ORPHA:2015
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent...	ORPHA:83451
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Low-set ears, Wide nasal bridge, Clinodactyly, Hearing impairment, Recurrent otitis media, Bulbou...	OMIM:613604
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Tongue fasciculations, Respiratory failure, Joint hy...	OMIM:600561
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Trigonocephaly, Anteverted nares, Wide mouth, Exaggerated cupid's bow, Posteriorly ...	OMIM:618506
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Clinodactyly, Hearing impairment, Open mouth, High palate, Short nose, Macrotia, Sy...	ORPHA:369891
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Down Syndrome	Narrow mouth, Open mouth, Protruding tongue, Round ear, Celiac disease, Anal atresia, Duodenal at...	ORPHA:870
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Un...	OMIM:618577
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Downturned corners of mouth, Anteverted nares, Micrognathia, Prominent ...	OMIM:300590
Hyperekplexia 4	Talipes equinovarus, Distal arthrogryposis, Hypsarrhythmia, Adducted thumb, High palate, Camptoda...	OMIM:618011
Potocki-Shaffer Syndrome	Broad nasal tip, Downturned corners of mouth, Parietal foramina, Underdeveloped nasal alae, Depre...	ORPHA:52022
Crouzon Syndrome	Optic atrophy, Hypoplasia of the maxilla, Choanal atresia, Conductive hearing impairment, Hearing...	ORPHA:207
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Decrease...	OMIM:218000
Rhizomelic Chondrodysplasia Punctata, Type 1	Depressed nasal bridge, Rhizomelia, Flared metaphysis, Respiratory insufficiency, Micrognathia, E...	OMIM:215100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Osteoarthritis, Joint hypermobility	OMIM:620080
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Cleft soft palate, Sensorineural hea...	OMIM:616331
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Death in infancy, Bowing of the long bones, Abnormal intestine morp...	ORPHA:1318
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Micrognathia, Ulnar bowi...	OMIM:617866
Fetal Akinesia Deformation Sequence 4	Low-set ears, Wide nasal bridge, Arthrogryposis multiplex congenita, Retrognathia, 11 pairs of ri...	OMIM:618393
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,...	ORPHA:2879
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Tooth malposition, Choanal atresia, Hearing impairment, Patholog...	OMIM:156400
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Sensorineural hearing impairment, Dislocated radial head, High palate...	OMIM:122470
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Slender finger, Multiple joint dislocation, Hip subluxation, Elb...	ORPHA:93360
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Thin ribs, A...	ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist, Brachydactyly, Osteoarthritis...	ORPHA:1657
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing i...	ORPHA:435638
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Optic atrophy, Choanal atresia, Depressed nasal bridge, Hearing i...	ORPHA:1914
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation, Reduced bone mineral density	OMIM:620200
Chung-Jansen Syndrome	Long philtrum, Large earlobe, Short nose, Anteverted nares, Micrognathia, Joint hypermobility, Sh...	OMIM:617991
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Low-set ears, Wide nasal bridge, Broad thumb, Flat occiput, Hearing impairment, Retrognathia, Lon...	OMIM:617452
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Joint hypermobility, Arachnodactyly, Talipes equino...	OMIM:615539
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R...	OMIM:608654
Edinburgh Malformation Syndrome	Low-set ears, Slender finger, Ulnar deviation of finger, Choanal atresia, Downturned corners of m...	ORPHA:1895
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, Abnormality of the middle ear, High palate, Rectovaginal f...	ORPHA:861
Terminal Osseous Dysplasia	Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s...	OMIM:300244
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone...	ORPHA:1422
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Thin upper ...	OMIM:615419
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Low-set ears, Pursed lips, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, High ...	ORPHA:562528
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Carpal synos...	ORPHA:53271
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Limitation of joint mobility, Fibular bowing, Micrognathia, Sensorineural h...	ORPHA:1427
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Carious teeth, Hearing impairment, Tooth agenesis, Smal...	OMIM:618363
Even-Plus Syndrome	Epiphyseal dysplasia, Depressed nasal ridge, Bifid nasal tip, Dysplasia of the femoral head, Hypo...	OMIM:616854
Recombinant Chromosome 8 Syndrome	Low-set ears, Abnormality of the dentition, Joint contracture of the hand, Depressed nasal bridge...	OMIM:179613
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v...	ORPHA:2563
8Q12 Microduplication Syndrome	Wide nasal bridge, Long philtrum, Abnormal cranial nerve morphology, Narrow mouth, Sensorineural ...	ORPHA:228399
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip con...	ORPHA:800
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Arthritis	ORPHA:2582
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow...	OMIM:201000
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Death in early adulthood, Sensorineural hearing impairment, Oro...	ORPHA:79107
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon...	ORPHA:174
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac...	ORPHA:1277
Hoxha-Aliu Syndrome	Low-set ears, Overlapping toe, Absent fifth metatarsal, Uplifted earlobe, High palate, Short dist...	OMIM:620662
Stickler Syndrome Type 1	Osteoarthritis, Joint hypermobility	ORPHA:90653
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro...	OMIM:617746
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Broad thumb, Plagiocephaly, Prominent fingertip pads, Hearing impairment, ...	OMIM:619721
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Hearing impairment, Delayed eruption of teeth, Microdont...	OMIM:619736
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Downturned corners of mouth, Large fleshy ears, Thin upper lip vermilion, Brac...	ORPHA:352530
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Micromelia, Finger syndactyly, Low-set, posteriorly rotated ears, Micrognathia...	ORPHA:1908
17P13.3 Microduplication Syndrome	Low-set ears, Congenital hip dislocation, Narrow mouth, Clinodactyly of the 5th finger, High pala...	ORPHA:217385
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Narrow mouth, ...	OMIM:617201
Endocrine-Cerebroosteodysplasia	Low-set ears, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Talipes equin...	OMIM:612651
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Overlapping toe, Carpal bone hypoplasia, Short metacarpal, Short nose, Osteopenia, ...	OMIM:616723
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Depressed nasal bridge, Dental malocclusion, Large earlobe, Short...	OMIM:155050
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Abnormal pinn...	OMIM:617925
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic...	ORPHA:363417
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormal pelvic girdle bone morphology, Long philt...	ORPHA:1988
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Low-set ears, Small hand, Broad long bones, Micrognathi...	OMIM:257850
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Fontaine Progeroid Syndrome	Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Everted lower lip ve...	OMIM:612289
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Osteopenia, Conductive hearing impairment, Sandal gap, Short toe, Long philtrum, De...	OMIM:617877
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinovarus, ...	OMIM:108720
Leukocyte Adhesion Deficiency Type Ii	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Conductive hearing impairment, ...	ORPHA:99843
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:2077
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffness, Hypoplasia of the...	ORPHA:2249
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Rickets, Osteomalacia, Trapezoidal distal femoral condyles, Bowing ...	OMIM:307800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormal palate morphology, D...	ORPHA:1495
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Short nose, Broad nasal...	OMIM:618529
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Clinodactyly, Micrognathia, Anal atresia, High palate...	ORPHA:96148
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Cebalid Syndrome	Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly, Platystencephaly, Hea...	OMIM:618774
Lethal Kniest-Like Dysplasia	Low-set ears, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog...	ORPHA:2347
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Broad thumb, Toe syndactyly, Flat occiput, Hearing impairment, Aplasia/Hypoplasia o...	ORPHA:505237
Gómez-López-Hernández Syndrome	Low-set ears, Anteverted nares, Turricephaly, Brachycephaly, Thin vermilion border	ORPHA:1532
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the outer ear, Abnormal nerve conduction velocity, Abnormality ...	OMIM:182290
Ullrich Congenital Muscular Dystrophy	Slender finger, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Micr...	ORPHA:75840
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Neonatal respiratory distress, Hearing impairment, Bulbous nose, Prominen...	OMIM:618828
Neu-Laxova Syndrome	Osteopenia, Bifid uvula, Depressed nasal ridge, Rickets, Micromelia, Retrognathia, Osteomalacia, ...	ORPHA:2671
Congenital Myopathy 14	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, High pala...	OMIM:618414
Bullous Impetigo	Septic arthritis, Recurrent bacterial skin infections, Pustule	ORPHA:36237
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, N...	OMIM:207410
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Sensorineural hearing impairment, Hip dysplasia, Flexion contracture, Short ...	OMIM:618379
Autosomal Dominant Robinow Syndrome	Low-set ears, Finger syndactyly, Hearing impairment, Open bite, Micrognathia, Anodontia, Short pa...	ORPHA:3107
ERI1-related disease	Low-set ears, Velopharyngeal insufficiency, Micrognathia, Finger joint hypermobility, High palate...	OMIM:608739
Ceroid Lipofuscinosis, Neuronal, 10	Low-set ears, Wide nasal bridge, Respiratory insufficiency, Neonatal death, Split hand, Respirato...	OMIM:610127
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Crumpled ear, Abnormal epiphy...	ORPHA:1458
Contractural Arachnodactyly, Congenital	Crumpled ear, Micrognathia, Hip contracture, Arachnodactyly, Bowing of the long bones, Talipes eq...	OMIM:121050
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Wide nasal bridge, Cupped ear, Broad hallux, Anteverted nares, Micrognathia, Overfo...	OMIM:617062
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Flat occiput, Bulging epiphyses, Rickets, Frontal bossing, Bulgi...	OMIM:600081
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Long philtrum, Bowing of the legs,...	OMIM:610682
Joubert Syndrome 1	Low-set ears, Macroglossia, Plagiocephaly, Postaxial foot polydactyly, Clinodactyly, Optic disc c...	OMIM:213300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Low-set ears, High, narrow palate, Choanal atresia, Broad proximal phalanges of the hand, Depress...	OMIM:607597
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Short nose, Advanced tarsal ossification, Malar flattening, Sho...	OMIM:269250
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Hearing impairment, Flared ...	ORPHA:93346
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Flat occiput, Bulging epiphyses, ...	OMIM:264700
Chromosome 5P13 Duplication Syndrome	Low-set ears, Wide nasal bridge, Downturned corners of mouth, Bulbous nose, Turricephaly, Short p...	OMIM:613174
Laron Syndrome	Short toe, Delayed skeletal maturation, Brachydactyly, Osteoarthritis, Abnormality of the elbow	ORPHA:633
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hand clenching, Overlapping fingers, Micrognathia, Multiple joint con...	OMIM:618291
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Malar flattening, Short ri...	OMIM:614524
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ...	ORPHA:79113
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Low-set ears, Depressed nasal bridge, Plagiocephaly, Clinodactyly, Bulbous nose, Wide mouth, Open...	OMIM:616789
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Hearing impairment, Abnormal tibia morphology, Genu valgum, Micrognathi...	ORPHA:666
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Distal Duplication 18Q	Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Low-set, posteriorl...	ORPHA:1716
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hearing impairment, Downturned corners of mouth, Anteverted nares, Protruding tongue, Brachycepha...	ORPHA:96147
Pseudodiastrophic Dysplasia	Rhizomelia, Hypoplasia of the odontoid process, Anteverted nares, Micrognathia, Malar flattening,...	OMIM:264180
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Wide nasal...	ORPHA:404440
Wieacker-Wolff Syndrome, Female-Restricted	Low-set ears, Microretrognathia, Radial deviation of the hand, Downturned corners of mouth, Long ...	OMIM:301041
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Osseous Heteroplasia, Progressive	Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Slender long bone, Downturned corners of mouth, Low-set, posteriorly rotated ears,...	ORPHA:1185
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Chronic otitis media...	ORPHA:819
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Short nose, Syndactyly, Submuc...	OMIM:614701
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Depressed nasal bridge, Micromelia, Delayed eruption of teeth, Retrognathia...	ORPHA:1675
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ...	ORPHA:2848
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal...	ORPHA:1248
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal hip bone morphology, Prominent occiput, Hearing abnormality, ...	ORPHA:577
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio...	OMIM:102370
Microphthalmia With Limb Anomalies	Low-set ears, Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, H...	OMIM:206920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregulari...	ORPHA:457395
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Low-set ears, Depressed nasal bridge, Retrognathia, Preaxial polydactyly, Overlapping toe, Overla...	OMIM:618142
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Lambdoidal craniosynostosis, Low-set...	OMIM:101400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Angelman Syndrome	Hypoplasia of the maxilla, Widely spaced teeth, Wide mouth, Protruding tongue, Brachycephaly, EEG...	OMIM:105830
Hallermann-Streiff Syndrome	Low-set ears, Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, Hi...	OMIM:234100
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High pa...	OMIM:166250
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Skull asymmetry, Anteverted nares, Malar flattening, Turricephaly, Smooth philtrum,...	OMIM:601853
Marshall Syndrome	Thick upper lip vermilion, Genu valgum, Micrognathia, Sensorineural hearing impairment, High pala...	ORPHA:560
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Kury-Isidor Syndrome	Low-set ears, Finger syndactyly, Long philtrum, Frontal bossing, Recurrent otitis media, Widely s...	OMIM:619762
Glycine Encephalopathy With Normal Serum Glycine	Low-set ears, Hand clenching, Optic atrophy, Depressed nasal bridge, Retrognathia, Elbow flexion ...	OMIM:617301
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Depressed nasal bridge, Broad thumb, Widely spaced teeth, Anteverte...	OMIM:617364
Orofaciodigital Syndrome Xix	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro...	OMIM:620107
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Depressed nasal bridge, Plagiocephaly, Sandal gap, Downturned corners of mouth, Bul...	OMIM:618430
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Multiple joint contractures, Respira...	ORPHA:370968
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Optic disc coloboma, Aplasia/Hypoplasia of the tongue, Trigonocephaly,...	ORPHA:1790
Mosaic Trisomy 14	Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Anteverted nares, ...	ORPHA:1703
Congenital Sialidosis Type 2	Low-set ears, Optic atrophy, Hearing impairment, Gingival overgrowth, Protruding tongue, Polydactyly	ORPHA:93400
6Q25 Microdeletion Syndrome	Wide nasal bridge, Plagiocephaly, Long philtrum, Camptodactyly of finger, Low-set, posteriorly ro...	ORPHA:251056
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Low-set ears, Osteopenia, Depressed nasal bridge, Metaphyseal dysplasia, Cr...	OMIM:614732
Trisomy 20P	Finger syndactyly, Micrognathia, Abnormal antihelix morphology, Everted lower lip vermilion, Macr...	ORPHA:261318
Phosphoribosylaminoimidazole Carboxylase Deficiency	Low-set ears, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nare...	OMIM:619859
Peho-Like Syndrome	Optic atrophy, Retrognathia, Open mouth, Hypsarrhythmia, Short nose, Tapered finger	OMIM:617507
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti...	OMIM:604416
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Micrognathia, Narrow mouth, Radioulnar synostosis...	OMIM:245600
Mosaic Trisomy 9	Low-set ears, Tessier cleft, Limitation of joint mobility, Micromelia, Finger clinodactyly, Campt...	ORPHA:99776
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Low-set ears, Depressed nasal bridge, Small hand, Mild hearing impairment, Widely spaced teeth, T...	ORPHA:459061
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Martsolf Syndrome 1	Low-set ears, Tooth malposition, Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint...	OMIM:212720
Radio-Renal Syndrome	High, narrow palate, Depressed nasal bridge, Micromelia, Retrognathia, Downturned corners of mout...	ORPHA:3015
Hypochondroplasia	Depressed nasal bridge, Flared metaphysis, Frontal bossing, Trident hand, Malar flattening, Aplas...	OMIM:146000
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Malar flattening, Fibular hypoplasia, Short r...	ORPHA:3144
Stuve-Wiedemann Syndrome 1	Low-set ears, Wide nasal base, Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, ...	OMIM:601559
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Abnormal epiphysis morphology, Dela...	ORPHA:96264
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Hip contracture, Ta...	OMIM:193700
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Genu valgum, Micrognathia, Unilateral conductiv...	OMIM:619488
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Ulnar deviation of finger, Hypoplasia of the maxilla, Depressed nasal brid...	ORPHA:1529
Frank-Ter Haar Syndrome	Low-set ears, Micrognathia, Bowing of the long bones, Talipes equinovarus, Prominent coccyx, Bila...	OMIM:249420
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Pentasomy X	Wide nasal bridge, Small hand, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotat...	ORPHA:11
Pontocerebellar Hypoplasia, Type 3	Low-set ears, Optic atrophy, High, narrow palate, Depressed nasal bridge, Hearing impairment, Dow...	OMIM:608027
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Wide nasal bri...	OMIM:617102
Stevenson-Carey Syndrome	Low-set ears, Joint contracture of the hand, Downturned corners of mouth, Underdeveloped nasal al...	OMIM:611961
Hamamy Syndrome	Low-set ears, Micrognathia, Sensorineural hearing impairment, Everted lower lip vermilion, High p...	OMIM:611174
Achondroplasia	Hearing impairment, Flat acetabular roof, Functional abnormality of the middle ear, Limited elbow...	ORPHA:15
Hyperparathyroidism, Transient Neonatal	Low-set ears, Osteopenia, Fractured rib, Wide nasal bridge, Depressed nasal bridge, Metaphyseal s...	OMIM:618188
Chromosome 3Q13.31 Deletion Syndrome	Low-set ears, Plagiocephaly, Short philtrum, Brachycephaly, Dolichocephaly, High palate, Proximal...	OMIM:615433
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia	ORPHA:2867
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Low-set ears, Osteopenia, Abnormality of the dentition, Depressed na...	OMIM:615398
9P13 Microdeletion Syndrome	Low-set ears, Wide nasal bridge, Microretrognathia, Recurrent otitis media, Joint stiffness, Ante...	ORPHA:324313
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Osteomalacia, Camptodactyly of finger, Abnormal dental morphology, Joint ...	ORPHA:2176
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Talipes equinovarus, Abnormal pinna morphology, Hyperextensibility of the finger joi...	OMIM:309583
Foxp1 Syndrome	Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly,...	ORPHA:391372
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Low-set, posteriorly rotated ears, Microdontia...	ORPHA:66625
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Wide nasal bridge, Neonatal respiratory distress, Aplasia/Hypoplasia of the externa...	ORPHA:168486
Peroxisomal Acyl-Coa Oxidase Deficiency	Low-set ears, Optic atrophy, Wide nasal bridge, Depressed nasal bridge, Brachycephaly, Bilateral ...	OMIM:264470
Monosomy 18P	Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, A...	ORPHA:1598
Chromosome 2P16.1-P15 Deletion Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Sensorineural hearing impairment...	OMIM:612513
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ...	ORPHA:2554
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Narrow mouth, ...	ORPHA:251028
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Hallux varus, L...	OMIM:612961
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Long hallux, Calvarial hyperostosis, Dislocated radial head, Cone-shaped epip...	OMIM:101800
Developmental And Epileptic Encephalopathy 100	Depressed nasal bridge, Small hand, Broad nasal tip, Elbow flexion contracture, Micrognathia, Gin...	OMIM:619777
48,Xxxy Syndrome	Depressed nasal ridge, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, A...	ORPHA:96263
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Low-set ears, Depressed nasal bridge, Thin upper lip vermilion, Brachycephaly, Craniosynostosis, ...	ORPHA:314575
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Clinodactyly, Triangular nasal tip, Genu valgum, Micrognathia, Open mouth, Protrudi...	OMIM:309580
Opsismodysplasia	Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Flat occiput, Frontal bossing...	ORPHA:2746
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	EEG with abnormally slow frequencies, Mandibular prognathia, Widely spaced teeth, Limitation of m...	ORPHA:98794
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abn...	ORPHA:2634
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Small epiphyses, Joint hypermobility, Adducted thum...	OMIM:620269
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Sandal gap, Broad hallux, Micromelia, Hypoplasia of the zygomatic bone, Long philt...	OMIM:614800
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Arthritis, Increased bone mineral density...	ORPHA:2485
Marshall Syndrome	Low-set ears, Radial bowing, Recurrent otitis media, Thick upper lip vermilion, Micrognathia, Sen...	OMIM:154780
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Micrognathia, Open mouth, Everted lower lip vermilion, Short foot, Short nose, Depr...	OMIM:156200
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Flat occiput, Bulging epiphyses, Rickets, Frontal bossing, Bulgi...	OMIM:241530
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Protruding tongue, Widely spaced teeth	ORPHA:98795
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Long philtrum, Trigonocephaly, Gingival overgrowth, Prominent nasal bridge, Pr...	OMIM:619179
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,...	ORPHA:90652
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Micromelia, Nonopposable triphalangeal thumb, Mandibular prognathia, Hypoplasia of the radius	ORPHA:2252
Al Kaissi Syndrome	Low-set ears, High, narrow palate, Small hand, Broad nasal tip, Wide nasal bridge, Clinodactyly, ...	OMIM:617694
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Heari...	ORPHA:1856
Acrofrontofacionasal Dysostosis 2	Low-set ears, Broad thumb, Broad hallux, Wide nose, Hand polydactyly, Brachycephaly, Overfolded h...	OMIM:239710
Icf Syndrome	Low-set ears, Depressed nasal bridge, Micrognathia, Protruding tongue, Macroglossia	ORPHA:2268
Inverted Duplicated Chromosome 15 Syndrome	Broad nasal tip, Low-set, posteriorly rotated ears, Joint hypermobility, 2-3 toe syndactyly, Tali...	ORPHA:3306
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Epiphyseal stippling, Glossoptosis	OMIM:614876
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Anal atresia, Flat acetabular roof, Macrotia, Cleft lip, Respiratory in...	OMIM:616300
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Hearing impairment, Epiphyseal s...	OMIM:302950
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Trigonocephaly, ...	ORPHA:1702
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of...	OMIM:619110
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Prominent fingertip pads, Frontal bossing, Thick lower lip vermilio...	OMIM:615828
Intermediate Nemaline Myopathy	Low-set ears, High, narrow palate, Long philtrum, Facial diplegia, Multiple prenatal fractures, F...	ORPHA:171433
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Joint stiffness, Irregular femoral epiphysis, Morbus Scheu...	OMIM:108300
Down Syndrome	Shallow acetabular fossae, Conductive hearing impairment, Clinodactyly, Sandal gap, Duodenal sten...	OMIM:190685
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Low-set ears, Microglossia, Cleft at the superior portion of the pinn...	OMIM:614669
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Conductive hearing impairment, Hearing impairment, Too...	OMIM:616229
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Widely spaced teeth, Protruding tongue, EEG abnormality, Wide mouth, Flat ...	ORPHA:411511
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Low-set, posteriorly rotated ears, Genu valgum, Reduced bone mineral...	ORPHA:2983
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Joint hypermobility	ORPHA:2220
Chromosome 2Q37 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Short toe, Type E brachydactyly, Anteverted nares, Malar...	OMIM:600430
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Sensorineural hearing impairment, Abnormality of the mall...	ORPHA:949
Perlman Syndrome	Low-set ears, High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal upper lip morphology...	ORPHA:2849
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Hear...	OMIM:600383
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation, Tracheomalacia	OMIM:245650
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Congenital hip dislocation, Joint contracture of the hand, Brachyturricephaly, Hype...	OMIM:300280
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Long philtrum, Widely spaced teeth...	OMIM:249620
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o...	OMIM:130000
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Joint hypermobility, Cervical C2/C3 vertebral fusion, Generalized j...	OMIM:618000
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Cleft palate	ORPHA:141152
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Recurrent otitis media, Brachycephaly...	OMIM:619995
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Long philtrum, Bulbous nose, Tra...	OMIM:617809
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hearing impairment, Sensorineural hearing impairment, Short nose, Plagiocephaly, Broad nasal tip,...	OMIM:239300
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Low-set ears, Conductive hearing impairment, Sandal gap, Finger syndactyly, Art...	ORPHA:254346
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing of the long b...	ORPHA:89936
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Depressed nasal bridge, Aplasia/Hypoplasia of the capital femoral epiphysis...	OMIM:215150
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Depressed nasal bridge, Dental crowding, Cleft upper lip, Abnormal dental morpholog...	OMIM:612582
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Plagiocephaly, Slender long bone, Retrognathia, Trigonocephaly, Micrognathia, Decrease...	OMIM:618265
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Brachyturricepha...	ORPHA:1225
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Plagiocephaly, Thick vermilion border, Joint hypermobility, Sho...	OMIM:619435
Premature Aging Syndrome, Penttinen Type	Thin ribs, Micrognathia, Sensorineural hearing impairment, Aplasia of the nasal bone, Flexion con...	OMIM:601812
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Short distal phalanx of finger, Absent epiphyses of the phalange...	ORPHA:93314
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Flat occiput, Wide ...	OMIM:614188
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Conductive hearing impairment, Limb undergrowth, Abnormal metaphysis morph...	ORPHA:1861
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ...	OMIM:300717
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinova...	OMIM:611209
Spinal Muscular Atrophy, Type I	Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Pfeiffer Syndrome Type 2	Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Atresia of the external...	ORPHA:93259
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Long philtrum, Short nose	OMIM:125700
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar...	ORPHA:85410
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, 11 pairs of ribs, Adducted thumb, EEG abnormality, Short nose	ORPHA:50810
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Optic atrophy, Retrognathia, Abnormal lip morphology, Abnormal upper lip mor...	ORPHA:2707
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Protruding ear, Brachycephaly, Abno...	ORPHA:236
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, 2-3 toe synd...	OMIM:613443
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Ritscher-Schinzel Syndrome 1	Low-set ears, Depressed nasal bridge, Micrognathia, Prominent occiput, Missing ribs, Brachycephal...	OMIM:220210
Hyperphosphatasia-Intellectual Disability Syndrome	Clinodactyly, Micrognathia, High palate, Abnormal parietal bone morphology, Plagiocephaly, Downtu...	ORPHA:247262
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micrognathia, High palate, Dislocated radial head, ...	ORPHA:1308
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule...	ORPHA:69126
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Talipes equin...	OMIM:619148
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Narrow nasal bridge, Micrognathia, Brachycephaly, Spina bifida occulta, Short ...	ORPHA:1514
Coffin-Siris Syndrome 6	Low-set ears, High, narrow palate, Depressed nasal bridge, Plagiocephaly, Conductive hearing impa...	OMIM:617808
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Plagiocephaly, Hearing impairment...	OMIM:620099
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Cerebrooculonasal Syndrome	Low-set ears, High palate, U-Shaped upper lip vermilion, Short nose, Downturned corners of mouth,...	OMIM:605627
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Low-set ears, Depressed nasal ridge, Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae,...	ORPHA:77300
Opsismodysplasia	Low-set ears, Hypoplasia of the odontoid process, Anterior rib cupping, Flat acetabular roof, Sho...	OMIM:258480
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Low-set, posteriorly ro...	ORPHA:363659
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Hearing impairment, Micrognathia, Limited elbow movement, High palate...	OMIM:610759
Hallermann-Streiff Syndrome	Small hand, Rib exostoses, Natal tooth, Micrognathia, Narrow mouth, Short foot, High, narrow pala...	ORPHA:2108
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Diaphys...	OMIM:620663
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Micrognathia, Death in childh...	OMIM:210710
19P13.13 Microdeletion Syndrome	Low-set ears, Optic atrophy, Macroglossia, Depressed nasal bridge, Sandal gap, Clinodactyly, Ante...	ORPHA:357001
Peroxisome Biogenesis Disorder 6A (Zellweger)	Low-set ears, Neonatal death, Epiphyseal stippling, Wide nasal bridge	OMIM:614870
Diaphanospondylodysostosis	Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Tracheomalacia, Delayed vertebral os...	OMIM:608022
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Hearing impairment...	ORPHA:85199
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, Postaxial hand polydactyly	ORPHA:2491
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly...	OMIM:620073
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis, Micrognathia, Short nos...	ORPHA:2547
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hearing impairment, Thick lower lip vermilion, Low-set, posteriorly rotated ears, ...	ORPHA:2701
Myhre Syndrome	Low-set ears, Limitation of joint mobility, Clinodactyly, Hearing impairment, Hypoplastic iliac w...	OMIM:139210
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ...	OMIM:603116
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hearing impairment, Atresia of the e...	ORPHA:245
Chromosome 17P13.1 Deletion Syndrome	Long hallux, Arachnodactyly, Everted lower lip vermilion, High palate, Short foot, High, narrow p...	OMIM:613776
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Small hand, Hearing impairment, Anal atresia, Short foot, Hip dislocation, Choanal ...	OMIM:300968
Becker Nevus Syndrome	Micromelia, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Spina bifida occulta	ORPHA:64755
Laurence-Moon Syndrome	Finger syndactyly, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Brachycep...	ORPHA:2377
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly...	OMIM:182212
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, Narrow mouth, Retrognathia, High palate	ORPHA:2528
Developmental And Epileptic Encephalopathy 31B	Low-set ears, Optic atrophy, Gingival overgrowth, Protruding tongue, Hypsarrhythmia	OMIM:620352
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Neonatal respiratory distress, Respiratory insufficiency, Decreased nerve cond...	OMIM:618356
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long...	ORPHA:3103
Chromosome 6Q11-Q14 Deletion Syndrome	Low-set ears, Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Joint hypermo...	OMIM:613544
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Cleft soft palate, Turricephaly, Bra...	OMIM:604757
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Abnormal epiphysis morphology...	ORPHA:3098
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	2-3 toe cutaneous syndactyly, Low-set ears, Wide nasal bridge, Depressed nasal bridge, Widely spa...	OMIM:300260
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia,...	ORPHA:2710
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Juvenile Sialidosis Type 2	Low-set ears, Optic atrophy, Hearing impairment, Gingival overgrowth, Protruding tongue	ORPHA:93399
Desanto-Shinawi Syndrome	Depressed nasal bridge, Hearing impairment, Downturned corners of mouth, Bulbous nose, Sensorineu...	OMIM:616708
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Long philtrum, Open bite, Anteverted nares, Micrognathia, Overfolded helix, Wi...	ORPHA:1974
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Joint stiffness, Abnormally ...	ORPHA:2167
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Micrognathia, Brachycephaly, Ove...	ORPHA:1913
Chopra-Amiel-Gordon Syndrome	Flared nostrils, Cleft lip, Thick nasal alae, Joint hypermobility, Thin upper lip vermilion, Smoo...	OMIM:619504
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Richieri-Costa/Guion-Almeida Syndrome	Hearing impairment, Cleft upper lip, Malar flattening, Abnormal digit morphology, Brachycephaly, ...	OMIM:268850
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Aplasia/Hypoplasia involving the pelvis...	ORPHA:163654
Pfeiffer Syndrome Type 3	Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing impairment, Lim...	ORPHA:93260
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Respiratory insufficiency, Open mouth, Protruding ton...	ORPHA:258
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia, Cloverleaf skull	OMIM:156830
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis	ORPHA:567544
Acrocephalopolydactylous Dysplasia	Low-set ears, Micromelia, Oxycephaly, Hypoplastic colon, Postaxial hand polydactyly, Craniosynost...	OMIM:200995
Trisomy 12P	Low-set ears, Wide nasal bridge, Downturned corners of mouth, Micrognathia, Abnormal antihelix mo...	ORPHA:1699
Osteogenesis Imperfecta, Type Ii	Thin ribs, Abnormal pelvic girdle bone morphology, Broad long bones, Respiratory insufficiency, T...	OMIM:166210
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Malar flattening, Brachydactyly,...	OMIM:614613
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari...	OMIM:616515
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Bulbous nose, Anteverted nares, Tented upper lip vermilion, Narrow palate, Flexion...	OMIM:616505
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Low-set ears, Carpal synostosis, Micrognathia, Narrow mouth, Patella...	OMIM:218600
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S...	OMIM:180700
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive h...	ORPHA:2095
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Low-set ears, Retrognathia, Camptodactyly of finger, Death in infancy, Short philtrum, Flexion co...	ORPHA:1194
Zechi-Ceide Syndrome	Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Cleft lip, Conductive he...	ORPHA:217017
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Op...	OMIM:300558
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Hypoplasia of the capital femoral epiphysis, Co...	OMIM:313400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Coronal craniosynostosis, Conical tooth, Abnormality of the dentition, Depressed na...	ORPHA:228390
Faciodigitogenital Syndrome, Autosomal Recessive	Hearing impairment, High palate, Short foot, Short nose, Syndactyly, Hyperextensible hand joints,...	OMIM:227330
Nemaline Myopathy 8	Flexion contracture, Facial palsy, Respiratory failure, Death in infancy	OMIM:615348
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Atelosteogenesis Type I	Low-set ears, Laryngotracheal stenosis, Rhizomelia, Absent or minimally ossified vertebral bodies...	ORPHA:1190
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobi...	ORPHA:177
Verheij Syndrome	Short 5th finger, Wide nasal bridge, Broad nasal tip, Branchial cyst, Clinodactyly, Retrognathia,...	OMIM:615583
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Hearing impairment, Increased susceptibility to fractures,...	OMIM:610968
Chime Syndrome	Abnormality of the outer ear, Hearing impairment, Short foot, Hip dislocation, Aplasia/Hypoplasia...	ORPHA:3474
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Genu varum, Short nose, Short dental root, Osteopenia, Bulbous nose, Small epiphyses...	OMIM:271510
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus, Abnormal auditory evoked potentials, Decreased motor nerve conduction veloci...	OMIM:601382
Menkes Disease	Metaphyseal spurs, Death in childhood, Joint hypermobility, Brachycephaly, Hypsarrhythmia, Metaph...	OMIM:309400
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Hypoplastic iliac wing, Micro...	OMIM:119600
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas...	OMIM:618761
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Optic atrophy, Wide nasal bridge, Plagiocephaly, Broad columella, Long philtrum, Ov...	OMIM:619383
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose, Mac...	ORPHA:438178
Weiss-Kruszka Syndrome	Low-set ears, Horizontal crus of helix, Hearing impairment, Cupped ear, Anteverted nares, Overfol...	OMIM:618619
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly, Wide ...	OMIM:309545
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bifid uvula, Hearing impairment, Cleft upper lip, Bulbous nose, Anteverted nar...	OMIM:300958
2Q23.1 Microdeletion Syndrome	Sandal gap, Macrodontia, Open mouth, Malar flattening, Tented upper lip vermilion, Brachycephaly,...	ORPHA:228402
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Large earlobe, Tented upper lip vermilion, Thin upper lip ver...	OMIM:615716
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Flared metaphysis, Premature osteoarthritis,...	ORPHA:93352
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Talon cusp, Plagiocephaly, Clinodactyly, Diastema, Carpal synostosis, Microdontia,...	OMIM:605282
Fibrous Dysplasia Of Bone	Hearing impairment, Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, B...	ORPHA:249
Summitt Syndrome	Depressed nasal ridge, Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Sh...	ORPHA:3210
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Neonatal respiratory distress, Clinodactyly, Tracheomalacia, Downturned c...	OMIM:217980
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Wide nasal bridge, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip ...	OMIM:618821
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Acne, Osteoarthritis	ORPHA:77296
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split foot, Split hand, Cleft palate	OMIM:183700
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, I...	ORPHA:289176
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis	OMIM:601457
Facial Paresis, Hereditary Congenital, 3	Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia...	OMIM:614744
Trisomy 10P	Low-set ears, Thumb contracture, Micrognathia, Talipes equinovarus, High palate, Rectovaginal fis...	ORPHA:171929
Peho Syndrome	Optic atrophy, Limitation of joint mobility, Arthrogryposis multiplex congenita, Abnormal upper l...	ORPHA:2836
Angelman Syndrome	Optic atrophy, Widely spaced teeth, Wide mouth, Protruding tongue, EEG abnormality, Optic disc pa...	ORPHA:72
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Depressed nasal bridge, Plagiocephaly, Hearing impairment, Short nose, Micrognathi...	OMIM:619833
Frontonasal Dysplasia 2	Low-set ears, Depressed nasal ridge, Conical tooth, Wide nasal bridge, Bifid nasal tip, Parietal ...	OMIM:613451
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Mild conductive heari...	ORPHA:763
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi...	OMIM:600920
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Limitation of jo...	ORPHA:2994
Hartsfield Syndrome	Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Respiratory insufficiency, Low-set, pos...	ORPHA:2117
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Narrow palate, Hearing impairment, Retrognathia, Long philtrum, Short nose, Mi...	OMIM:620250
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha...	DECIPHER:46
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ...	ORPHA:3429
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Downturned corners of mouth, Long philtrum, Anteverted nares, Micro...	ORPHA:391408
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Anal stenosis, Plagiocephaly, Broad nasal tip, Broad hallux, Hearing impairmen...	OMIM:614749
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Glycine Encephalopathy 2	EEG with burst suppression, Respiratory failure	OMIM:620398
Hall-Riggs Syndrome	Wide nasal bridge, Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners o...	ORPHA:2107
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Xq28 (MECP2) duplication	Depressed nasal bridge, Narrow mouth, Malar flattening, Death in childhood, Brachycephaly, Macrotia	DECIPHER:45
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Cleft upper lip, Underdeveloped na...	OMIM:612916
White-Sutton Syndrome	Low-set ears, Abnormality of the outer ear, Broad thumb, Hypoplastic cervical vertebrae, Microgna...	OMIM:616364
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Neonatal respiratory distress, Congenital contracture, Micrognathia, Death in infa...	OMIM:615042
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect...	ORPHA:31202
Otopalatodigital Syndrome, Type Ii	Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	EEG with generalized slow activity, Interictal EEG abnormality, Wrist hypermobility, Narrow nasal...	ORPHA:544503
16P11.2P12.2 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Microretrognathia, Hearing impairment, Camptodactyly of finger, Bul...	ORPHA:261211
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Frontal bossing, Aplasia of the pro...	ORPHA:2256
Keutel Syndrome	Short distal phalanx of finger, Optic atrophy, Depressed nasal bridge, Hearing impairment, Underd...	ORPHA:85202
Al-Raqad Syndrome	Low-set ears, Sandal gap, Narrow mouth, Joint hypermobility, Thin upper lip vermilion, Brachydact...	OMIM:616459
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Omodysplasia 2	Limited elbow flexion, Recurrent otitis media, Micrognathia, Dislocated radial head, Hypoplastic ...	OMIM:164745
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Upper limb undergrowth...	ORPHA:94068
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Joint hypermobility, Protruding ear, Brachycephaly, EEG abnormality, H...	OMIM:618798
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Talipes equinovarus, Wide nose, Plagiocephaly, Thin upper lip vermilion, Clinodacty...	OMIM:619293
Temple Syndrome	Bifid uvula, Small hand, Depressed nasal bridge, Clinodactyly, Recurrent otitis media, Anteverted...	OMIM:616222
Orofaciodigital Syndrome Xv	Low-set ears, Wide nasal bridge, Midline notch of upper alveolar ridge, Broad hallux, Anteverted ...	OMIM:617127
Lowry-Maclean Syndrome	Low-set ears, Osteopenia, Hypoplasia of the maxilla, High, narrow palate, Choanal atresia, Retrog...	ORPHA:2409
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto...	OMIM:601596
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Low-set ears, Aplastic clavicle, Depressed nasal bridge, Micromelia, Preaxial polydactyly, Hamart...	OMIM:616546
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Coarse metaphyseal trabecularization, Frontal bossing, Osteomalacia...	ORPHA:93160
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Slender finger, Choanal atresia, Conductive hearing impairment, Atresia of the exte...	OMIM:610536
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Atresia of the external auditory canal, Micrognathia, Sensorineural h...	ORPHA:199
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Joint stiffness, M...	ORPHA:1752
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Malar flat...	ORPHA:93328
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Cleft upper lip	OMIM:600251
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short hallux, Cleft maxillary alveolar ridge, Short 5th finger, Broad nasal tip, ...	ORPHA:508488
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Poly...	OMIM:616910
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Bifid uvula, Small hand, Plagiocephaly, Cleft lip, Sandal gap, Clinodactyly, Downtu...	OMIM:618089
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Joint swelling, Osteolytic defects of the phalanges of th...	OMIM:228000
Cutis Laxa, Autosomal Recessive, Type Iiia	Low-set ears, Congenital hip dislocation, Narrow mouth, Joint hypermobility, Talipes equinovarus,...	OMIM:219150
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Optic atrophy, Osteopenia, Depressed nasal bridge, Slender long bone, Downturned co...	OMIM:618590
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Plagiocephaly, Camptodactyly of finger, Brachycephaly, EEG abnormality, Dolichocep...	ORPHA:272
Arthrogryposis, Distal, Type 4	Hypoplastic helices, Osteopenia, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Deviat...	OMIM:609128
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Hearing impairment, Micrognathia, High, narrow palate, Osteopenia, Downturned corne...	ORPHA:369837
Geleophysic Dysplasia 1	Joint contracture of the hand, Short palm, Short metacarpals with rounded proximal ends, Irregula...	OMIM:231050
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor...	ORPHA:2831
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Anal atresia, Short foot, Wide nose, Preaxial ha...	ORPHA:93271
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short...	OMIM:268305
Campomelic Dysplasia	Low-set ears, Hearing impairment, Micrognathia, Bowing of the long bones, Talipes equinovarus, Hy...	ORPHA:140
Monosomy 9P	Low-set ears, Limitation of joint mobility, Atresia of the external auditory canal, Micrognathia,...	ORPHA:261112
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Small hand, Plagiocephaly, Frontal bossing, Low-set, posteriorly rotated ears,...	ORPHA:371364
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Hearing impairment, O...	ORPHA:1507
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar f...	OMIM:604841
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Micrognathia, Malar flattening,...	ORPHA:250984
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue, Hearing impairment	OMIM:619580
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Micrognathia,...	ORPHA:1143
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Low-set ears, Broad thumb, Toe syndactyly, Micrognathia, Open mouth, Narrow mouth, Everted lower ...	OMIM:619720
Baraitser-Winter Syndrome 1	Low-set ears, Wide nasal bridge, Retrognathia, Long philtrum, Cleft upper lip, Trigonocephaly, An...	OMIM:243310
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Low-set ears, High, narrow palate, Prominent fingertip pads, Retrognathia, Long...	ORPHA:485405
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, ...	OMIM:123500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Abnormal earlobe ...	ORPHA:95699
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal lower...	ORPHA:2590
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Depressed nasal bridge, Hearing impairment, Finger clinodactyly, Long philtrum, Nar...	OMIM:601353
3C Syndrome	Low-set ears, Optic atrophy, High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Fing...	ORPHA:7
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Ab...	OMIM:253250
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h...	OMIM:109120
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Delayed skel...	OMIM:190350
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Retrognathia, Respiratory insufficiency, High palate, Arthrogryposis multiplex con...	OMIM:615330
Warburg Micro Syndrome 3	Optic atrophy, Narrow palate, Downturned corners of mouth, Micrognathia, Brachycephaly, Short nos...	OMIM:614222
Nablus Mask-Like Facial Syndrome	Low-set ears, Joint contracture of the hand, Clinodactyly, Narrow mouth, Short hallux, Everted lo...	OMIM:608156
Bilateral Perisylvian Polymicrogyria	Choanal atresia, EEG with frontal focal spikes, Hearing impairment, Micrognathia, Facial diplegia...	ORPHA:98889
Renpenning Syndrome	High, narrow palate, Broad columella, Abnormal rib morphology, Macrodontia, Joint stiffness, Prom...	ORPHA:3242
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Brachycephaly,...	OMIM:620240
Aarskog-Scott Syndrome	Short 5th finger, Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the odontoid proces...	OMIM:305400
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Downturned corners of mouth, Malar flattening, Short philtrum, Ectopic anus, Aplas...	ORPHA:94066
Alg9-Cdg	Low-set ears, Large fleshy ears, Micrognathia, Talipes equinovarus, Broad ischia, Abnormal bone o...	ORPHA:79328
Ayme-Gripp Syndrome	Low-set ears, Hearing impairment, Narrow mouth, Sensorineural hearing impairment, Radioulnar syno...	OMIM:601088
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death ...	ORPHA:93946
Rothmund-Thomson Syndrome Type 2	Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Long nose...	ORPHA:221016
Elsahy-Waters Syndrome	Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, I...	OMIM:211380
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Undetectable visual evoked potentials, Stillbirth, Cranial hyperostosis, Flared me...	OMIM:259720
Glass Syndrome	Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High pa...	OMIM:612313
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioul...	ORPHA:536467
Doors Syndrome	Low-set ears, Wide nasal base, Atresia of the external auditory canal, Short lingual frenulum, Op...	ORPHA:79500
Weill-Marchesani Syndrome 2	Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Hypoplasia of the ...	OMIM:608328
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Delayed eruption of teeth, ...	OMIM:615866
Clark-Baraitser syndrome	Broad nasal tip, Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thic...	OMIM:300602
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Neonatal respiratory distress, Respiratory failure, Hearing impairment	OMIM:619057
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Dental crowding, Sandal gap, Retrognathia, Long philtr...	OMIM:617061
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, O...	OMIM:619356
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agangl...	OMIM:613870
Distal Duplication 5Q	Low-set ears, Carious teeth, Absent thumb, Long philtrum, Short nose, Micrognathia, Narrow mouth,...	ORPHA:96097
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Low-set ears, Cupped ear, Cleft at the superior portion of the pinna,...	OMIM:602483
Schisis Association	Unilateral cleft lip, Micromelia, Tracheoesophageal fistula, Anal atresia, Cleft palate	ORPHA:63862
Cree Impaired Intellectual Development Syndrome	Low-set ears, Cutaneous finger syndactyly, Micrognathia, Cleft soft palate, Brachycephaly, Aplasi...	OMIM:606851
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Rhizomelia, Hearing impairment, Recurrent otitis media, Femoral bowing, T...	OMIM:616482
Smith-Lemli-Opitz Syndrome	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping...	OMIM:270400
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
2P15P16.1 Microdeletion Syndrome	Low-set ears, Hearing impairment, Narrow mouth, Prominent nasal tip, Everted lower lip vermilion,...	ORPHA:261349
Miller-Dieker Syndrome	Abnormal upper lip morphology, Anteverted nares, EEG abnormality, Clinodactyly of the 5th finger,...	ORPHA:531
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Long philtrum, Thin upper lip vermilion, Abnormality of visu...	OMIM:617523
Aarskog-Scott Syndrome	Wide nasal bridge, Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Finger sy...	ORPHA:915
Ring Chromosome 7 Syndrome	Small hand, Prominent crus of helix, Narrow naris, Genu valgum, Narrow mouth, Short nose, Short 5...	ORPHA:1449
Kbg Syndrome	Bilateral conductive hearing impairment, Finger clinodactyly, Long philtrum, Underdeveloped nasal...	ORPHA:2332
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Short distal phalanx of finger, Optic atrophy, Broad thumb, Cleft upper lip, W...	OMIM:201180
X-Linked Intellectual Disability, Snyder Type	Low-set ears, Narrow mouth, Arachnodactyly, Everted lower lip vermilion, High palate, Bulbous nos...	ORPHA:3063
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb...	OMIM:618728
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set ears, Rhizomelia, Broad thumb, Mandibular prognathia, Short finger, Irregular epiphyses, ...	OMIM:612813
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Depressed nasal bridge, Short femoral neck, Flared metaphysis, Irregular epiphyses, Thick lower l...	OMIM:610442
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Leukodystrophy, Hypomyelinating, 10	Low-set ears, Hypoplasia of the antihelix, Hearing impairment, Long philtrum, Bulbous nose, Antev...	OMIM:616420
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Microretrognathia, Carious teeth, Finger...	ORPHA:1786
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Brachycephaly, Anal atresia, Mandibular prognathia, Macrotia	ORPHA:93950
Kbg Syndrome	Ulnar deviation of the 2nd finger, Widely-spaced maxillary central incisors, Macrotia, Syndactyly...	OMIM:148050
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Micrognathia, Short nose, Syndactyly...	OMIM:616894
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Abnormal lim...	ORPHA:2204
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Talipes equinovarus, Microdo...	OMIM:213980
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Long philtrum, Large earlobe, Intestinal...	OMIM:618316
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hearing impairment, Cleft mandible, Everted lower lip vermilion, Short nose, Pierre-Robin sequenc...	ORPHA:364577
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,...	OMIM:617519
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Low-set ears, Wide nasal bridge, Microretrognathia, Cleft lip, Downturned corners of mouth, Long ...	OMIM:618571
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Natal tooth, Camptodactyly of toe, Respiratory failure, 2-3 finger syn...	ORPHA:158687
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Hearing impairment, ...	OMIM:183600
Severe Congenital Nemaline Myopathy	Low-set ears, Thin ribs, Facial diplegia, Adducted thumb, Multiple prenatal fractures, Flexion co...	ORPHA:171430
Marshall-Smith Syndrome	Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin...	OMIM:602535
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Depressed nasal bridge...	OMIM:277600
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Protruding ear, Radioulnar synostosis, Cleft palate	OMIM:302905
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Brachycephaly, ...	OMIM:608776
Robinow Syndrome	Low-set ears, Tooth malposition, Flared nostrils, Ankyloglossia, Marked delay in eruption of perm...	ORPHA:97360
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Brachycephaly, L...	OMIM:156610
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microretrognathia, Conductive hearin...	ORPHA:1307
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge...	OMIM:305620
Oculodentodigital Dysplasia	Carious teeth, Clinodactyly, Joint contracture of the 5th finger, High palate, Abnormal pinna mor...	OMIM:164200
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Small hand, Conductive hearing impairment, Sandal gap, Prominent nasal bridge, Tent...	OMIM:618885
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Wide nasal bridge, Plagiocephaly, Dental malocclusion, Hearing impairment, S...	OMIM:619149
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lower limb pain, Skin rash, Erythema nodosum, Arthritis	OMIM:611762
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, Sensorineural hearin...	OMIM:272460
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Li...	ORPHA:401935
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Intellectual Disability-Strabismus Syndrome	Low-set ears, Abnormality of the dentition, Joint contracture of the hand, Plagiocephaly, Limitat...	ORPHA:363528
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Respiratory failure, Abnormal seventh cranial phy...	ORPHA:90117
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Micrognathia, Overfolded helix, Prominent nas...	ORPHA:2083
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Plagiocephaly, Natal tooth, Hearing impairment, Tracheomalacia, Thi...	ORPHA:261652
Aymé-Gripp Syndrome	Low-set ears, Limitation of joint mobility, Narrow mouth, Sensorineural hearing impairment, Radio...	ORPHA:1272
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa...	OMIM:619229
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Undetectable visual evoked potentials, Meckel diverticulum, Retrognathia, Frontal b...	ORPHA:163961
Distal Deletion 9P	Aplasia/Hypoplasia of the earlobes, High, narrow palate, Abnormal helix morphology, Abnormality o...	ORPHA:1642
Meckel Syndrome, Type 8	Low-set ears, Depressed nasal ridge, Cleft upper lip, Polydactyly, Talipes equinovarus, Short nos...	OMIM:613885
Frontonasal Dysplasia 3	Low-set ears, Wide nasal bridge, Tessier cleft, Underdeveloped nasal alae, Brachycephaly, Posteri...	OMIM:613456
Distal Deletion 10P	Wide nasal bridge, Hearing impairment, Low-set, posteriorly rotated ears, Joint stiffness, Microg...	ORPHA:1580
Developmental And Epileptic Encephalopathy 71	EEG with burst suppression, Respiratory failure, Respiratory insufficiency	OMIM:618328
Arterial Tortuosity Syndrome	Rocker bottom foot, Cardiorespiratory arrest, Macrotia, Short nose, Avascular necrosis of the cap...	ORPHA:3342
Ulbright-Hodes Syndrome	Low-set ears, Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Ta...	ORPHA:3404
Neurofaciodigitorenal Syndrome	Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Plagiocephaly, Atres...	ORPHA:2673
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Natal tooth, Den...	OMIM:145420
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Williams-Beuren Region Duplication Syndrome	Broad nasal tip, Diastema, Micrognathia, Short philtrum, Brachycephaly, Overfolded helix, High pa...	OMIM:609757
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Respiratory insufficiency, Joint stiffness, Abnormal hip bone morphology, Microgn...	ORPHA:1166
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp...	ORPHA:289
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Microdontia	ORPHA:1765
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Plagiocephaly, Retro...	OMIM:618853
Fetal Akinesia Deformation Sequence 2	Low-set ears, Wide nasal bridge, Respiratory insufficiency, Micrognathia, Tented upper lip vermil...	OMIM:618388
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co...	OMIM:619334
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon...	ORPHA:93357
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ...	ORPHA:2215
Bcard Syndrome	Low-set ears, Osteopenia, Abnormality of the dentition, Contracture of the proximal interphalange...	OMIM:612394
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Respiratory insufficiency, Low-set, posteriorly rotated ears, Antevert...	ORPHA:2031
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F...	ORPHA:1106
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Alkuraya-Kucinskas Syndrome	Low-set ears, Hand clenching, Depressed nasal bridge, Plagiocephaly, Arthrogryposis multiplex con...	OMIM:617822
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Th...	ORPHA:1920
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Craniosynostosis	OMIM:614416
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Retrognathia, Overlapping toe, Anteverted nares, Open mouth, Exaggerated ...	ORPHA:254528
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Optic atrophy, Neonatal respiratory distress, Plagiocephaly, Microretrognathia, Downturned corner...	ORPHA:457193
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Short nose	OMIM:613670
Loeys-Dietz Syndrome 5	Cleft soft palate, Arachnodactyly, Talipes equinovarus, Eosinophilic infiltration of the esophagu...	OMIM:615582
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Infantile sensorineural hearing impairment, Respiratory insufficiency ...	ORPHA:254875
Neu-Laxova Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic...	OMIM:256520
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Wide nasal bridge, Long philtrum, Anteverted nares, Frontal bossing, Respiratory...	OMIM:312170
Vacterl Association With Hydrocephalus	Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Anal atresia, Respiratory ...	OMIM:276950
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Joint stiffnes...	OMIM:619184
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia...	OMIM:250420
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Hearing impairment, Subluxation of the small joints of the hand, Dysplasia of the f...	ORPHA:536471
Zimmermann-Laband Syndrome	Bifid uvula, Overtubulated long bones, Large fleshy ears, Bulbous nose, Micrognathia, Wide mouth,...	ORPHA:3473
Alpha-Mannosidosis, Infantile Form	Abnormality of the sphenoid sinus, Genu valgum, Sensorineural hearing impairment, Bilateral coxa ...	ORPHA:309282
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Optic atrophy, Finger syndactyly, Hearing impairment, Non-midline cleft of the...	ORPHA:1252
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Wide nasal bridge, Tapered toe, Thin ribs, Shoulder flexion contracture, Slender lo...	OMIM:620369
Warburg Micro Syndrome 2	Optic atrophy, Undetectable visual evoked potentials, Overlapping toe, Prominent nasal bridge, As...	OMIM:614225
Osteogenesis Imperfecta, Type Xx	Low-set ears, Narrow palate, Crumpled ear, Plagiocephaly, Mandibular prognathia, Retrognathia, Ag...	OMIM:618644
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Small hand, Clinodactyly, Hearing impairment, Overlapping toe, Micrognathia, Narrow...	OMIM:309590
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Congenital hip dislocation, Depressed nasal bridge, Carious teeth, Neonatal respira...	OMIM:244450
Intellectual Developmental Disorder, Autosomal Dominant 29	Low-set ears, Narrow palate, Dental crowding, Broad hallux, Sandal gap, Hearing impairment, Long ...	OMIM:616078
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Burn-Mckeown Syndrome	Bifid uvula, Choanal atresia, Conductive hearing impairment, Hearing impairment, Cleft upper lip,...	OMIM:608572
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Avascular necrosis, Bone pain	ORPHA:399180
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Deep philtrum, Downturned corners of mouth, Anteverted nares	OMIM:618859
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Short thumb, Underdeveloped nasal alae, Overla...	ORPHA:436003
Alagille Syndrome	Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Long nose, Protrudi...	ORPHA:52
Bainbridge-Ropers Syndrome	Low-set ears, Hand clenching, Micrognathia, Arachnodactyly, Everted lower lip vermilion, High pal...	OMIM:615485
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat...	OMIM:246560
Branchioskeletogenital Syndrome	Carious teeth, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of mouth, Upper lim...	ORPHA:1299
Peters Plus Syndrome	Toe syndactyly, Micrognathia, Anal atresia, Short foot, Short nose, Short toe, Low-set, posterior...	ORPHA:709
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Seckel Syndrome 1	Ivory epiphyses, Low-set ears, Micrognathia, High palate, Dislocated radial head, Cone-shaped epi...	OMIM:210600
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Long philtrum, Abnormal palate morphology, Abnormality of visual evoked potent...	ORPHA:1389
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis	ORPHA:85414
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Hearing impairment, Death in infancy	OMIM:616277
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Small hand, Depressed nasal bridge, Clinodactyly, Recurrent otitis media, Anteverted...	ORPHA:96184
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Decreased fibular diameter, Dysplasia of the femoral head, Genu valgum, Micrognathia, ...	OMIM:619127
Orofaciodigital Syndrome Iv	Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobul...	OMIM:258860
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Cutaneous finger syndactyly, Type...	OMIM:113000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Narrow palate, Tapered toe, Neonatal respiratory distress, Nasal congestion, Elbow ...	OMIM:608836
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Overlapping toe, Fibular bowing, Talipes equinovarus, Bilat...	OMIM:618268
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Plagiocephaly, Tooth agenesis, Abnormal femur morphology, Micrognathia, Abnormal p...	ORPHA:2063
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Atelosteogenesis, Type Iii	Depressed nasal bridge, Tombstone-shaped proximal phalanges, Rhizomelia, Hypoplasia of the maxill...	OMIM:108721
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Short distal phalanx of finger, Optic atrophy, Hypoplasia of the maxilla, Clinodact...	OMIM:614261
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Au-Kline Syndrome	Overlapping toe, Open mouth, Sensorineural hearing impairment, High palate, Short nose, Plagiocep...	OMIM:616580
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch...	ORPHA:50815
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S...	OMIM:615777
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Arthritis	OMIM:616414
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Optic atrophy, Plagiocephaly, Fractures of the long bones, Widely spa...	ORPHA:496641
Fetal Hydantoin Syndrome	Short distal phalanx of finger, Depressed nasal ridge, Low-set, posteriorly rotated ears, Hearing...	ORPHA:1912
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Depressed nasal bridge, Abnormal auditory evoked potentials, Irregular epiphyses, Irregular denti...	OMIM:619260
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Interictal epileptiform activity, Brachycephaly	OMIM:300699
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Genu valgum, Short ribs, Joint hypermobility, Limb underg...	ORPHA:1803
Intellectual Developmental Disorder, Autosomal Dominant 64	Low-set ears, Depressed nasal bridge, Plagiocephaly, Cupped ear, Prominent fingertip pads, Bulbou...	OMIM:619188
Cutis Laxa, Autosomal Recessive, Type Iia	Low-set ears, Congenital hip dislocation, Carious teeth, Long philtrum, Anteverted nares, Narrow ...	OMIM:219200
Harel-Yoon Syndrome	Optic atrophy, Frontal bossing, Micrognathia, Hip dysplasia, Mandibular prognathia, Short nose	OMIM:617183
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ...	OMIM:311900
Peho Syndrome	Optic atrophy, Undetectable visual evoked potentials, Retrognathia, Tented upper lip vermilion, O...	OMIM:260565
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Bronchiectasis	OMIM:620321
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla...	OMIM:601455
Craniofrontonasal Syndrome	Wide nasal bridge, Coronal craniosynostosis, Abnormality of the dentition, Toe syndactyly, 3-4 fi...	OMIM:304110
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Premature loss of teeth, Short nose, Micrognathia, Narrow mouth, Death in early ...	OMIM:608612
Baker-Gordon Syndrome	Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, EEG abnormal...	OMIM:618218
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Atresia of the external auditory canal, ...	OMIM:146510
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Optic atrophy, Recurrent upper respiratory tract infections, Contract...	ORPHA:3078
Oculofaciocardiodental Syndrome	Tooth malposition, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar ...	ORPHA:2712
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Long philtrum, Frontal bossing, Prominent nose, Wide mouth, Malar flattening, ...	ORPHA:1292
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Plagiocephaly, Abnormal earlobe morphology, Recurrent otitis media, Congenital ...	ORPHA:500159
Seckel Syndrome 5	Low-set ears, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Prominent n...	OMIM:613823
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Turnpenny-Fry Syndrome	Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Prominent nasal tip, High ...	OMIM:618371
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Talipes equinovarus, Tongue atrophy	ORPHA:496689
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Clinodactyly, Hearing impairment, Retrognathia, Bulbous n...	OMIM:619981
Stuve-Wiedemann Syndrome 2	Neonatal death, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camp...	OMIM:619751
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Short toe, Abnormal mandible morphology, Cam...	ORPHA:3201
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Joint contracture of the hand, Decreased motor nerve conduction veloc...	ORPHA:456312
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Long philtrum, Optic disc pallor, Posteriorly rotated ears, Short nose	OMIM:300887
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Depressed nasal bridge, Rhizomelia, Clinodactyly, Hearing impairment, Frontal bossi...	OMIM:614114
Isolated Agammaglobulinemia	Pneumonia, Otitis media, Skin rash, Clinodactyly of the 5th toe, Arthritis, Sinusitis, Inflammato...	ORPHA:229717
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Orofaciodigital Syndrome Type 1	Finger syndactyly, Hearing impairment, Open bite, Micrognathia, Foot polydactyly, High palate, Ta...	ORPHA:2750
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal...	OMIM:170390
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Optic disc coloboma, Brachydactyly, Short phalanx of finger, Short metacarpal	OMIM:600092
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Anteverted nares, Narrow...	ORPHA:59315
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Open mouth, Tented upper lip vermilion, Joint hypermobility, Uplifted earlobe, M...	OMIM:300143
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Hearing impairment, Respiratory insufficiency, Death in childhood,...	OMIM:245400
Hereditary Motor And Sensory Neuropathy, Type Iic	Sensorineural hearing impairment, Down-sloping shoulders, Decreased distal sensory nerve action p...	OMIM:606071
Peroxisome Biogenesis Disorder 4A (Zellweger)	Depressed nasal bridge, Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Acne, Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasifo...	ORPHA:324964
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Tetraploidy	Hypoplasia of the ear cartilage, Radial club hand, Micrognathia, Convex nasal ridge, Short philtr...	ORPHA:3305
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Sensorineural heari...	OMIM:619512
Campomelic Dysplasia	Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic c...	OMIM:114290
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Long philtrum, Wide mouth, Op...	OMIM:616638
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Finger syndactyly, Micrognathia, Open mouth, Sensorineural hearin...	ORPHA:93932
Immunodeficiency 95	Recurrent viral upper respiratory tract infections, Respiratory failure	OMIM:619773
19P13.3 Microduplication Syndrome	Low-set ears, Clinodactyly, Underdeveloped nasal alae, Prominent nose, Micrognathia, Narrow mouth...	ORPHA:447980
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Conductive hearing impairment, ...	OMIM:616835
Kinsship Syndrome	Low-set ears, Ankyloglossia, Micrognathia, Dislocated radial head, Hip dislocation, Osteopenia, D...	OMIM:619297
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae,...	ORPHA:1234
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Meier-Gorlin Syndrome 1	Low-set ears, Thin ribs, Small hand, Joint contracture of the hand, Hearing impairment, Atresia o...	OMIM:224690
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Plagiocephaly, Clinodactyly, Short finger, Elbow contracture, Bulbous nose, Narro...	OMIM:615656
Kagami-Ogata Syndrome	Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteve...	OMIM:608149
Desmosterolosis	Low-set ears, Rhizomelia, Joint contracture of the hand, Cupped ear, Arthrogryposis multiplex con...	OMIM:602398
9Q33.3Q34.11 Microdeletion Syndrome	Low-set ears, Epistaxis, Plagiocephaly, Tented philtrum, Patellar hypoplasia, Bulbous nose, Esoph...	ORPHA:495818
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Hypoplasia of the ear cartilage, Broad thumb, Mandibular prognathia, Lip pit, Camp...	ORPHA:1236
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Depressed nasal bridge, Rickets, Retrognathia, Osteomalacia, Avascular necrosis of th...	ORPHA:1901
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy, Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Open mouth, Short philtrum, Short nose, Optic nerve hypoplasia	ORPHA:228384
De Barsy Syndrome	Low-set ears, Congenital hip dislocation, Osteopenia, Delayed eruption of teeth, Large earlobe, N...	ORPHA:2962
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, M...	OMIM:184250
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Micrognathia, Cleft soft palate, Short hard palate, High palate, Pie...	OMIM:117650
Camptodactyly Syndrome, Guadalajara Type 3	Wide nasal base, Osteopenia, Small hand, Broad nasal tip, Broad femoral neck, Retrognathia, Broad...	ORPHA:488434
Cartilage-Hair Hypoplasia	Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, ...	OMIM:250250
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Low-set ears, Osteopenia, Gingival bleeding, Short toe, Recurrent mandibular subluxations, Microg...	OMIM:225410
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Incre...	ORPHA:371428
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Neonatal respiratory distress, Flared metaphy...	OMIM:187600
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c...	ORPHA:1972
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Optic nerve hypoplasia, Bicoronal synostosis, Brachycephaly, Spina b...	OMIM:618736
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Wide nasal bridge, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impair...	OMIM:616367
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Malar flatte...	OMIM:257300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Primary Ciliary Dyskinesia	Nasal polyposis, Neonatal respiratory distress, Conductive hearing impairment, Hearing impairment...	ORPHA:244
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Low-set ears, Hand clenching, Open bite, Arachnodactyly, Optic disc pallor, High palate, Hip disl...	OMIM:620083
Distal Deletion 3P	Hearing impairment, Downturned corners of mouth, Long philtrum, Low-set, posteriorly rotated ears...	ORPHA:1620
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Natal tooth, Neonatal death, Short foot, Abnormal pinna morph...	OMIM:269860
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Intestinal malrotation, Genu valgum, Joint hypermobility, Brachycephaly,...	OMIM:617798
Kleefstra Syndrome	Limitation of joint mobility, Delayed eruption of teeth, Hearing impairment, Tracheomalacia, Down...	ORPHA:261494
Rothmund-Thomson Syndrome, Type 2	Small hand, Micrognathia, Talipes equinovarus, High palate, Short foot, Short nose, Hypoplasia of...	OMIM:268400
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Abnormality of the dentition, Aplasia/Hypoplasia...	ORPHA:2909
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Tongue atrophy, Hypermobility of distal interphalangeal joints, Elbow...	OMIM:615065
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Low-set ears, Abnormality of the outer ear, Clinodactyly, Thick upper lip vermilion, Narrow mouth...	OMIM:617360
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, Osteopenia, Dental malocclusion, Contractures of the large joints, Trigonocephaly,...	ORPHA:329178
Noonan Syndrome 13	Low-set ears, Wide nasal bridge, Plagiocephaly, Clinodactyly, Long philtrum, Widely spaced teeth,...	OMIM:619087
Cousin Syndrome	Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti...	OMIM:260660
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Broad nasal tip, Patellar hypoplasia, Thick nas...	ORPHA:1827
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Acromelic Frontonasal Dysostosis	Low-set ears, Short tibia, Talipes equinovarus, Bifid nose, Midline facial cleft, U-Shaped upper ...	OMIM:603671
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Mandibular prognathia, Tented upper lip vermilion, Short philtrum, Brachycepha...	ORPHA:521445
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Triphalan...	OMIM:141400
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid...	ORPHA:2429
Stickler Syndrome	Hearing impairment, Open bite, Genu valgum, Micrognathia, Sensorineural hearing impairment, Arach...	ORPHA:828
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Trigonocephaly 1	High, narrow palate, Wide nasal bridge, Meckel diverticulum, Long philtrum, Trigonocephaly, Crani...	OMIM:190440
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Overlapp...	OMIM:613026
Braddock-Carey Syndrome 1	Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Anteverted nares, Talipes eq...	OMIM:619980
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Joint stiffness, Micrognathia, Anteverted nares, Microdontia, ...	ORPHA:1915
Bresek Syndrome	Low-set ears, Plagiocephaly, Hearing impairment, Neonatal death, Protruding ear, Aganglionic mega...	ORPHA:85284
16P13.11 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Atresia of the external auditory canal, Cleft upper lip, Ca...	ORPHA:261236
Rhyns Syndrome	Osteopenia, Conductive hearing impairment, Radial bowing, Sensorineural hearing impairment, Thick...	OMIM:602152
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormality...	ORPHA:85436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Elbow contracture, Achilles tendon contracture, Vertebral fusion, Facial palsy, Res...	OMIM:606612
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Anosmia, Hypoplasia of the zygomatic bone, Joint stiffness, Genu ...	ORPHA:1295
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Neonatal respiratory distress, Plagiocephaly, Dental crowding, Underdevel...	OMIM:619005
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Gm1 Gangliosidosis	Low-set ears, Optic atrophy, Mandibular prognathia, Depressed nasal ridge, Abnormal epiphysis mor...	ORPHA:354
Joubert Syndrome 18	Retrognathia, Trident pelvis, Joint hypermobility, Bowing of the long bones, Talipes equinovarus,...	OMIM:614815
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty...	ORPHA:989
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Cervical ribs,...	ORPHA:3320
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Postaxial foot polydactyly, Contractures of the large joints, Long philtrum, Respi...	ORPHA:521426
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Tessier cleft, Broad nasal tip, Conductive hearing impairment, Atresia of the e...	OMIM:239800
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ...	OMIM:602418
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Microretrognathia, Arthrogryposis multiplex congenita, Bulbous nose, Anteverted nar...	OMIM:236500
Tetrasomy 5P	Low-set ears, Wide nasal bridge, Long philtrum, Overlapping toe, Micrognathia, Anteverted nares, ...	ORPHA:3309
Lethal Congenital Contracture Syndrome 10	Low-set ears, Narrow palate, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Microgna...	OMIM:617022
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Low-set ears, Wide nasal bridge, Mandibular prognathia, Plagiocephaly, Microretrognathia, Hypopla...	OMIM:613603
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, Plagiocephaly, Brachycephaly, High palate, Cleft palate	OMIM:618603
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Micr...	ORPHA:96149
Carpenter Syndrome 2	Low-set ears, Broad thumb, Carious teeth, Narrow naris, Cutaneous finger syndactyly, Sensorineura...	OMIM:614976
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Moebius Syndrome	Finger syndactyly, Hearing impairment, Micrognathia, Open mouth, Aplasia/Hypoplasia of the thumb,...	ORPHA:570
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Arthritis, Bone pain	ORPHA:37748
Mosaic Trisomy 8	Broad nasal tip, Limitation of joint mobility, Hearing impairment, Arthrogryposis multiplex conge...	ORPHA:96061
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Low-set ears, Plagiocephaly, Arachnodactyly, Brachycephaly, Clinodactyly of the...	OMIM:619910
Gorlin Syndrome	Wide nasal bridge, Mandibular prognathia, Carious teeth, Abnormal rib morphology, Abnormality of ...	ORPHA:377
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Tooth malposition, Small hand, Wide nasal base, Limitation of joint mobility, Heari...	ORPHA:480880
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Anosmia, Clinodactyly, Ectrodactyly, Cleft upper lip, Tooth agenesis...	OMIM:147950
Humeroradial Synostosis	Wide nasal bridge, Humeroradial synostosis, Brachycephaly, Small earlobe, Microtia	OMIM:236400
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted nares, Mic...	ORPHA:1358
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Micrognathia, Hip dislocation, Macrotia, Wide nose, Short nose, Short toe, Cervical...	OMIM:613458
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Long hallux, Anteverted nares, Tented upper lip vermilion, Thin upper ...	OMIM:619854
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis	OMIM:120100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	EEG with abnormally slow frequencies, Multifocal epileptiform discharges, Brachycephaly, Respirat...	ORPHA:70472
Orofaciodigital Syndrome Vi	Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory...	OMIM:277170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Gaucher Disease Type 1	Osteopenia, Erlenmeyer flask deformity of the femurs, Delayed skeletal maturation, Pathologic fra...	ORPHA:77259
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod...	OMIM:300373
7Q31 Microdeletion Syndrome	Low-set ears, Hypoplasia of the maxilla, Plagiocephaly, Clinodactyly of the 2nd finger, Prominent...	ORPHA:251061
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Tented upper lip vermilion,...	ORPHA:314655
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Decreased nerve conduction velocity, Talipes equinovarus, Ventilator dep...	OMIM:604320
Prune1-Related Neurological Syndrome	Low-set ears, Optic atrophy, Tongue fasciculations, Plagiocephaly, Respiratory insufficiency, Mic...	ORPHA:544469
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty...	OMIM:263520
Mietens Syndrome	Wide nasal bridge, Short nose, Avascular necrosis of the capital femoral epiphysis, Joint stiffne...	ORPHA:2557
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Bulbous nose, Microdontia, Short sternum, ...	OMIM:258850
Nail-Patella Syndrome	Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell...	ORPHA:2614
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr...	ORPHA:33110
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Malrotation of small bowel, Microretrognathia, Cleft lip, Hearing impairment, Lon...	ORPHA:2953
Peroxisome Biogenesis Disorder 2A (Zellweger)	Abnormal helix morphology, Joint contracture of the hand, Micrognathia, Death in childhood, Optic...	OMIM:214110
Muscular Dystrophy, Congenital, 1B	Facial palsy, Respiratory failure, Achilles tendon contracture	OMIM:604801
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Malar flattening, Brachycephaly, Abnormal location of ears, Abnormal shape of...	OMIM:218350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hearing impairment, Micrognathia, Narrow mouth, Hip contracture, Hypsarrhythmia, High palate, Pie...	OMIM:300868
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Frontofacionasal Dysplasia	Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, B...	ORPHA:1791
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Broad hallux, Long philtrum, Bulbous nose, Anteverted nares, Tented upper...	OMIM:614105
Alkaptonuria	Joint dislocation, Calcification of cartilage, Joint stiffness, Increased susceptibility to fract...	ORPHA:56
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of the external audito...	ORPHA:264200
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Abnormality of the dentition, Carious teeth, Del...	ORPHA:221008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Abnormal ilium morphology, Short distal phalanx of finger, Anal stenosis, Cupped ea...	OMIM:614080
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Optic atrophy, Anteverted nares, Wide mouth, Prominent nasal bridge, Thin upper lip...	OMIM:608688
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Hypoplasia of the zygomat...	ORPHA:958
Hartnup Disorder	Glossitis	OMIM:234500
Developmental And Epileptic Encephalopathy 110	Low-set ears, Small hand, Posterior plagiocephaly, Continuous spike and waves during slow sleep, ...	OMIM:620149
7Q11.23 Microduplication Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingual frenulum, Abnormal o...	ORPHA:96121
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Choanal atresia	OMIM:612247
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermili...	OMIM:280000
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Death in infancy, Respiratory failure, Wide anterior fontanel	OMIM:618240
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Tongue fasciculations, Arthrogryposis multiplex congenita, Respiratory failure, De...	ORPHA:2254
Holoprosencephaly 7	Hypoplastic nasal septum, Hypoplasia of the premaxilla, Bilateral cleft palate, Bifid nose, Absen...	OMIM:610828
Gm1 Gangliosidosis Type 1	Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Long philtrum, Macroti...	ORPHA:79255
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Joint stiffness, Micrognathia, Brachycephaly, Large ha...	ORPHA:2062
Postaxial Acrofacial Dysostosis	Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p...	ORPHA:246
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi...	ORPHA:798
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Thick ...	OMIM:247200
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde...	OMIM:619142
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Hearing impairment...	ORPHA:1826
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Horner syndrome, Tongue atrophy, Short mandibular...	OMIM:141300
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Preaxial hand polydactyly, Intestinal polyposis, Lymphoid nodular hyperpl...	ORPHA:210548
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Plagiocephaly, Microglossia, Retrognathia, Broad nasal tip, Respiratory i...	OMIM:254940
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Hypoplastic vertebral bodies, Brachycephaly, Brach...	ORPHA:2163
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Horiz...	OMIM:618019
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Intestinal malrotation, ...	OMIM:617602
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Sensorineural hearing imp...	OMIM:305450
Adnp Syndrome	Low-set ears, Broad thumb, Abnormal finger morphology, Plagiocephaly, Trigonocephaly, Polydactyly...	ORPHA:404448
Hemimegalencephaly	Optic atrophy, Hemihypsarrhythmia, EEG with focal sharp slow waves, Interictal EEG abnormality, E...	ORPHA:99802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Congenital hip dislocation, Plagiocephaly, Long philtrum, Submucous cleft hard pala...	ORPHA:457279
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Plagiocephaly, Abnormal dental enamel morphology, Macrodontia...	ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Mandibular prognathia, Low-set, posteriorly rotated ears, Joint hypermob...	ORPHA:171866
Intellectual Developmental Disorder, Autosomal Dominant 74	Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Prominent nose	OMIM:620688
Moderate Hemophilia A	Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage ...	ORPHA:169805
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Low-set, posteriorly rotated ears, Rib fusion, Brachycephaly, Bifid ribs, Short ...	ORPHA:1394
8P23.1 Microdeletion Syndrome	Low-set ears, Wide nasal bridge, Broad thumb, Micrognathia, Prominent nasal bridge, Biparietal na...	ORPHA:251071
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Contractures of the large joints, Long philtrum, Respiratory insuffi...	OMIM:617527
Felty Syndrome	Recurrent pneumonia, Limitation of joint mobility, Abnormal joint morphology, Episcleritis, Synov...	ORPHA:47612
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Shortening of all phalanges of fingers, Limb undergrowth,...	OMIM:601356
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Multifocal epileptiform discharges, Anteverted ears, Mandibular prognathia, Short n...	OMIM:618087
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn...	ORPHA:239
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Cleft palate, Ab...	ORPHA:66637
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia,...	OMIM:614069
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Depressed nasal bridge, Sandal gap, Hypoplasia of the zygomatic bone, Retrognathia,...	ORPHA:1812
Cockayne Syndrome B	Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Death in...	OMIM:133540
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand polydactyly,...	ORPHA:2549
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Short nose	OMIM:245570
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Optic atrophy, Plagiocephaly, Protruding ear, Talipes equinovarus, Joint contracture, Narrow pala...	OMIM:617481
Developmental And Epileptic Encephalopathy 89	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Long philtrum, EEG wi...	OMIM:619124
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractu...	ORPHA:793
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Recurrent upper respiratory tract infe...	OMIM:300534
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Bilateral conductiv...	OMIM:617802
Leri-Weill Dyschondrosteosis	Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal meta...	OMIM:127300
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Prominent nose, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation,...	ORPHA:453510
Alpha-Mannosidosis	Synostosis of joints, Delayed skeletal maturation, Bowing of the long bones, Arthritis, Chronic o...	ORPHA:61
Robinow-Sorauf Syndrome	Broad thumb, Plagiocephaly, Broad hallux, Narrow nose, Malar flattening, Duplication of the dista...	OMIM:180750
Primrose Syndrome	Hearing impairment, Genu valgum, Narrow mouth, Hip contracture, Torus palatinus, High palate, Mac...	OMIM:259050
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, High palate, Short nose, H...	OMIM:115150
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Micrognathia, Long philtrum, Short nose	ORPHA:2598
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, P...	OMIM:619143
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Brachycephaly	OMIM:615985
Dpm1-Cdg	High, narrow palate, Optic atrophy, Depressed nasal bridge, Sandal gap, Long hallux, Trigonocepha...	ORPHA:79322
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Micrognathia, Narrow mouth, Death in childhood...	OMIM:309500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, High ...	OMIM:612474
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Hypsarrhythmia, Abnormal...	OMIM:269150
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalan...	OMIM:619636
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Malan Overgrowth Syndrome	Depressed nasal bridge, Plagiocephaly, Slender long bone, Scaphocephaly, Narrow mouth, Optic disc...	ORPHA:420179
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Small hand, Downturned corners of mouth, Long ear, Micrognathia, Limited ...	ORPHA:85276
Orofaciodigital Syndrome Type 6	Micrognathia, Foot polydactyly, High palate, Biparietal narrowing, Syndactyly, Midline notch of u...	ORPHA:2754
Craniolenticulosutural Dysplasia	Carious teeth, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wing, Hypoplasia o...	OMIM:607812
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis	ORPHA:397596
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Limb undergrowth, Joint contracture, High palate, Hi...	OMIM:618005
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil...	OMIM:619656
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Cleft lip, Clinodactyly, Hyposmia, Bifid nose, Osteoporosis, Cleft palate	OMIM:614838
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Sen...	ORPHA:193
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m...	OMIM:616867
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal synostosis, Respira...	OMIM:615349
Isotretinoin Syndrome	Abnormality of the outer ear, Depressed nasal bridge, Micrognathia, Spina bifida occulta, Biparie...	ORPHA:2305
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves...	OMIM:113650
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosis, Sensorineural hearing impairm...	OMIM:151050
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1072
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Long phil...	OMIM:619479
Lig4 Syndrome	Wide nasal bridge, Micrognathia, Brachycephaly, Convex nasal ridge, Thin vermilion border, Clinod...	ORPHA:99812
Myhre Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Mandibular prognathia, Abnormal epiphysis m...	ORPHA:2588
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Usher Syndrome Type 1	Abnormal dental enamel morphology, Vestibular hypofunction, Abnormal cochlea morphology, Sensorin...	ORPHA:231169
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho...	OMIM:301054
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Depressed nasal ridge, Thin ribs, Cleft upper lip, Short finger, Micrognathia, Incr...	OMIM:312150
3Q29 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Dental crowding, Prominent nasal bridge, Joint hyperm...	ORPHA:65286
Coffin-Lowry Syndrome	Thick nasal septum, Hearing impairment, Open mouth, Sensorineural hearing impairment, Everted low...	OMIM:303600
Adenylosuccinase Deficiency	Low-set ears, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Brachyc...	OMIM:103050
Idiopathic Camptocormia	Myositis, Abnormal inflammatory response, Myelitis, Osteoarthritis	ORPHA:1320
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,...	ORPHA:1200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Dental malocclusion, Flared metaphysis, Short finger, Recurrent ...	OMIM:608940
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,...	ORPHA:2658
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Dental crowding	ORPHA:320385
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Joint stiffness, Interphalangeal joint erosions, J...	OMIM:180300
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev...	ORPHA:1794
Tetrasomy 18P	Long philtrum, Low-set, posteriorly rotated ears, Narrow mouth, Large hands, Thin vermilion borde...	ORPHA:3307
Mend Syndrome	Low-set ears, Asymmetry of the mouth, Abnormal auditory evoked potentials, Broad hallux, Overlapp...	ORPHA:401973
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Conductive hearing impairment, Premature ost...	OMIM:611962
Autosomal Recessive Spondylocostal Dysostosis	Depressed nasal bridge, Finger syndactyly, Long philtrum, Camptodactyly of finger, Low-set, poste...	ORPHA:2311
Orofaciodigital Syndrome V	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hearing impairment, Optic disc...	OMIM:174300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Ho...	OMIM:613091
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Death in childhood, ...	OMIM:612301
Say Syndrome	Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Cleft palate, Ma...	OMIM:181180
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Neonatal respiratory distress, Recurrent otitis media, Recurrent sinusitis, Chro...	OMIM:608647
Leigh Syndrome, Nuclear	Optic atrophy, Respiratory failure, Respiratory insufficiency, Sensorineural hearing impairment	OMIM:256000
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Respiratory insufficiency, Horizontal ribs, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, EEG abnormality, Short nose, Frontal bossing, Macr...	ORPHA:99688
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, Dislocated radial head, Shor...	OMIM:135900
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Cervical subluxation, Knee pain, Avascular necrosis of the capital femoral epiphysis, Arthritis	OMIM:184100
Trisomy 18	Narrow palate, Choanal atresia, Microretrognathia, Deviation of finger, Abnormal rib morphology, ...	ORPHA:3380
Eosinophilic Fasciitis	Myositis, Arthritis, Fasciitis	ORPHA:3165
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b...	ORPHA:1906
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Sandal gap, Cleft upper lip, Widely spaced...	OMIM:612530
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Dental crowding	OMIM:615031
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Frontal bossing, Irregular epiphyses, Elbow contracture, Sclerosis...	OMIM:618162
Cog1-Cdg	Wide nasal bridge, Osteopenia, Rhizomelia, Posterior rib gap, Long philtrum, Low-set, posteriorly...	ORPHA:263508
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted nares,...	OMIM:300912
Warburg Micro Syndrome 4	Optic atrophy, Decreased motor nerve conduction velocity, Long philtrum, Anteverted nares, Promin...	OMIM:615663
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Brachycephaly, Tented upper lip vermilion, Long philtrum	OMIM:619972
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Macroglossia, Wide nasal bridge, EEG with generalized epileptiform discharge...	ORPHA:488632
Menke-Hennekam Syndrome 1	Low-set ears, Hearing impairment, Everted upper lip vermilion, Overlapping toe, Micrognathia, Abs...	OMIM:618332
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Sensori...	OMIM:616430
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Conductive hearing impairment, Short femoral neck, Flared metaphysis, Short palm, Recurrent otiti...	ORPHA:2502
White-Sutton Syndrome	Optic atrophy, Abnormality of the outer ear, Broad nasal tip, Depressed nasal bridge, Downturned ...	ORPHA:468678
Achard Syndrome	Micrognathia, Joint hypermobility, Arachnodactyly, Brachycephaly, Broad skull	OMIM:100700
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Broad distal phalanx of finger, Low-set, posteriorly rotated ears, Enlarged interphalangeal joint...	ORPHA:2988
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Monosomy 9Q22.3	Low-set ears, Delayed eruption of teeth, Long philtrum, Trigonocephaly, Narrow mouth, Polydactyly...	ORPHA:77301
Aica-Ribosiduria	Low-set ears, Brachycephaly, Wide mouth, Thin upper lip vermilion	ORPHA:250977
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop...	OMIM:142680
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Wide nasal bridge, Abnormal helix morphology, Short toe, Finger syndactyly, Long ph...	ORPHA:1519
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Exaggerated median tongue furrow, Dental crowding, Hyperplasia of the maxilla, 2-3...	ORPHA:313892
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Hypoplasia of the odontoid process, Hearing impairment, Limited hip movement, Delaye...	OMIM:183900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Arachnodactyly, Short nose, Hypoplasia of the maxilla, Absent t...	ORPHA:500150
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Wide nasal ridge, Polydactyly, Hip dyspl...	ORPHA:531151
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Low-set ears, Depressed nasal ridge, Wide nasal bridge, Broad thumb, Finger syndactyly, Long phil...	ORPHA:2211
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Thin upper lip vermilion, Brachycephaly, Interictal epileptiform activity, High pa...	OMIM:618862
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Long philtrum, Broad ribs, Joint hypermobility, Sho...	ORPHA:370930
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Wild Type Abeta2M Amyloidosis	Arthritis, Arthropathy	ORPHA:85446
Chromosome 14Q11-Q22 Deletion Syndrome	Low-set ears, Optic atrophy, Wide nasal bridge, Plagiocephaly, Depressed nasal bridge, Long philt...	OMIM:613457
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro...	OMIM:137550
3Mc Syndrome 2	Wide nasal bridge, Caudal appendage, Skull asymmetry, Hearing impairment, Downturned corners of m...	OMIM:265050
Developmental Delay With Or Without Dysmorphic Facies And Autism	Low-set ears, Hearing impairment, Micrognathia, Short foot, Short nose, Cleft lip, Optic disc col...	OMIM:618454
Houge-Janssens Syndrome 2	Plagiocephaly, Broad hallux, Deviation of the 5th finger, Anteverted nares, Open mouth, Tented up...	OMIM:616362
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Hip cont...	OMIM:216400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger	ORPHA:2521
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Distal Duplication 17Q	Depressed nasal bridge, Rhizomelia, Low-set, posteriorly rotated ears, Overlapping toe, Genu valg...	ORPHA:3379
Global Developmental Delay With Or Without Impaired Intellectual Development	Low-set ears, Plagiocephaly, Bulbous nose, Oligodontia, Thin upper lip vermilion, Frontal bossing	OMIM:618330
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Donnai-Barrow Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Intestinal malrotation...	OMIM:222448
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Neonatal respiratory distress, Elbow flexion contracture, Facial diplegia,...	ORPHA:70
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti...	ORPHA:29207
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly, Mandibular prognathia, Sandal gap	OMIM:615516
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Long philtrum, Prominent nose, Tented upper lip vermilion, Thin upper lip vermilion...	OMIM:619244
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Conjunct...	ORPHA:448237
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Tooth malposition, Plagiocephaly, Conductive hearing impairment, Retrognathia, Abn...	ORPHA:2785
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ...	OMIM:241520
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures,...	ORPHA:77297
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn...	OMIM:258315
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari...	OMIM:608670
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Narrow mouth, Arachnodactyly, Talipes equinovarus, High palate,...	OMIM:601776
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Hypsarrhythmia, Short foot, Short nose, Choanal atresia, Downturned cor...	OMIM:301044
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Narrow mouth, Abnormal th...	ORPHA:2719
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Short col...	ORPHA:1770
Teebi-Shaltout Syndrome	Low-set ears, Caudal appendage, Narrow mouth, Talipes equinovarus, Syndactyly, High, narrow palat...	OMIM:272950
Gapo Syndrome	High, narrow palate, Optic atrophy, Depressed nasal bridge, Plagiocephaly, Eruption failure, Long...	OMIM:230740
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Broad thumb, Plagiocephaly, Broad hallux, Short thumb, Continuous spike a...	OMIM:620224
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A...	OMIM:203500
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Abnormal meta...	OMIM:268300
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Narrow mouth, Talipes equinovar...	OMIM:264090
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Plagiocephaly, Hearing impairment, Brachycephaly, Hip dysplasia, Flexion contracture,...	ORPHA:500055
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Abnormal antihelix morphology, ...	ORPHA:261144
Orofaciodigital Syndrome I	Low-set ears, Carious teeth, Clinodactyly, Hearing impairment, Ankyloglossia, High palate, Syndac...	OMIM:311200
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Hearing impairment, Death in childhood, Death in infancy, Neonatal death, ...	OMIM:614922
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, High palate,...	OMIM:300867
3Q29 Microduplication Syndrome	Low-set ears, Abnormality of the dentition, Wide nasal bridge, Toe syndactyly, Sandal gap, Hearin...	ORPHA:251038
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Talipes equinovarus, Tongue atrophy	OMIM:616155
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Optic atrophy	ORPHA:1173
Hajdu-Cheney Syndrome	Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Decreased...	ORPHA:955
Fg Syndrome 5	Depressed nasal bridge, Diastema, Long philtrum, Trigonocephaly, Anteverted nares, Short nose	OMIM:300581
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, D...	ORPHA:39812
Toriello-Carey Syndrome	Low-set ears, Neonatal respiratory distress, Clinodactyly, Hearing impairment, Anteriorly placed ...	ORPHA:3338
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Osteopenia, Abnormal helix morphology, Plagiocephaly, Bifid uvula, Hearing imp...	ORPHA:453499
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Posterior plagiocephaly, Prominent nasal tip, High palate, Short nose, Broad nasal tip, Protrudin...	OMIM:620330
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili...	ORPHA:177907
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Depressed nasal bridge, Cleft lip, Cupped ear, Broad nasal tip, Depressed nasal tip...	OMIM:618223
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Broad secondary al...	ORPHA:3472
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Micrognathia, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Bowing of the lo...	OMIM:130070
Cinca Syndrome	Patellar overgrowth, Skin rash, Arthritis, Uveitis	OMIM:607115
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose, Macrotia	OMIM:620292
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Micrognathia, Hip dysplasia, Mandibular prognathia, Short nose, Optic nerve hypopl...	ORPHA:496790
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Open mouth, Eve...	ORPHA:534
Marbach-Schaaf Neurodevelopmental Syndrome	Depressed nasal bridge, Plagiocephaly, Broad nasal tip, Downturned corners of mouth, Recurrent ot...	OMIM:619680
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger	OMIM:618725
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Small hand, Posterior plagiocephaly, Carious teeth, Ankyloglossia, Genu valgum, Eve...	OMIM:615873
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Sensorineural hearing i...	ORPHA:261330
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Hypsarrhythmia, Optic disc pa...	OMIM:607872
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Choanal atresia, Tessier cleft, Deviation of finger, Low-set,...	ORPHA:1104
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Delayed eruption of teeth, Hearing impairment, Widely spaced teeth, Gingival overg...	OMIM:301072
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Respiratory failure	OMIM:250940
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Micrognathia, Everted lower lip vermilion, High palate, Cloverleaf sk...	OMIM:613610
Zttk Syndrome	Low-set ears, Small hand, Narrow mouth, High palate, Short foot, Short nose, Hypoplasia of the ma...	OMIM:617140
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft...	OMIM:225500
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Nicolaides-Baraitser Syndrome	Wide nasal base, Broad 2nd toe, Short lingual frenulum, Everted lower lip vermilion, Short metaca...	OMIM:601358
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Abnormality of the dentition, Micr...	ORPHA:90154
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Short nose, Shor...	ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Overfolded helix, Brachycephaly, Wide mouth	OMIM:616083
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Sensorineural hear...	OMIM:614207
Aase-Smith Syndrome I	Slender finger, Open mouth, Death in infancy, Talipes equinovarus, Flexion contracture, Abnormal ...	OMIM:147800
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Anteverted nares, Protru...	OMIM:618731
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Tooth abscess, Rickets, Bowing of the legs	ORPHA:89937
Auriculocondylar Syndrome 3	Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o...	OMIM:615706
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly, Hypsarrhythmia	OMIM:309541
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Sensorineural hearing impairment, Posteriorly rot...	ORPHA:2143
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Cleft palate	ORPHA:2476
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Depressed nasal ridge, Thin ribs, Short finger, Micrognathia, Increased susceptibil...	OMIM:253290
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Talipes equinovarus, Death in infancy, Vertebral fusion, Short long bone	OMIM:618845
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Broad nasal tip, Denta...	OMIM:617157
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, C...	ORPHA:47
Mohr-Tranebjaerg Syndrome	Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Abnorma...	ORPHA:52368
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Ab...	OMIM:263650
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Underdeveloped nasal alae, Re...	OMIM:604173
Geleophysic Dysplasia 2	Cone-shaped epiphysis, Limitation of joint mobility, Long philtrum, Respiratory insufficiency, Jo...	OMIM:614185
Ohdo Syndrome, Sbbys Variant	Low-set ears, Depressed nasal bridge, Hearing impairment, Long hallux, Bulbous nose, Micrognathia...	OMIM:603736
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Large earlobe, Micrognathia, Osteoporosis, Flexion contracture, Short nose, Wide nose	OMIM:615851
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Immunodeficiency 68	Septic arthritis, Recurrent skin infections, Lymphadenitis	OMIM:612260
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Broad thumb, Abnormal large intestine morphology, Long philtrum, Anteverted nares,...	ORPHA:109
Micro Syndrome	Wide nasal bridge, Optic atrophy, Low-set, posteriorly rotated ears, Joint stiffness, Micrognathi...	ORPHA:2510
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Low-set ears, Congenital hip dislocation, Carious teeth, Broad nasal tip, Long philtrum, Antevert...	ORPHA:357074
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Arthritis, Short metatarsal, Short metacarpal	OMIM:613328
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Thin calvarium, Micrognathia, Arachnodactyly, Frontal bossing, Short nose	ORPHA:1129
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Broad nasal tip, Hearing impairment, Long philtrum, Thick lower lip vermilion, Thin upper lip ver...	ORPHA:137634
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Respiratory insufficiency, Flexion contracture, Tongue atrophy, Hip disloc...	OMIM:614678
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Short thumb, Downturned corners of mouth, Widely spaced teeth, Anteverted nare...	OMIM:616728
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hearing impairment, Micrognathia, Abnormal antihelix morphology,...	ORPHA:2886
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Ankyloglossia, Death in infancy, Decreased skull...	OMIM:602361
Orofaciodigital Syndrome Type 3	Low-set ears, Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of...	ORPHA:2752
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment,...	OMIM:607932
Limb-Mammary Syndrome	Bifid uvula, Hypodontia, Hallux valgus, Split hand, Camptodactyly, Cleft palate, Split foot, Synd...	OMIM:603543
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Anosmia, Genu valgum, Osteoporosis, Cleft palate	OMIM:614880
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/...	OMIM:118100
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Plagiocephaly, Broad nasal tip, Hearing impairment, Long philtrum, Micrognathi...	OMIM:300749
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Hypophosphatasia, Adult	Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Incre...	OMIM:146300
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials...	ORPHA:98755
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Plagiocephaly, Recurrent otitis media, Anteverted nares, Prominent nasal bridge, Op...	OMIM:617751
Mandibuloacral Dysplasia	Dental crowding, Contractures of the large joints, Abnormal tongue morphology, Narrow nose, Micro...	ORPHA:2457
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Downturned corners of mouth, Long...	ORPHA:46059
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Optic atrophy, Anteverted nares, Open mouth, Hypsarrhythmia, Optic disc pallor...	OMIM:618437
Dend Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Clinodactyly of the 4th finger, Hyp...	ORPHA:79134
Hypoglossia With Situs Inversus	Hypodontia, High palate, Microglossia, Narrow mouth	OMIM:612776
Ctcf-Related Neurodevelopmental Disorder	Narrow mouth, Joint contracture of the 5th finger, Short nose, Osteopenia, Broad nasal tip, Promi...	ORPHA:363611
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera...	ORPHA:157215
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Exostosis of the external auditory canal, Micrognathia, Dysplastic patella, Patella...	OMIM:265000
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Woolly Hair Nevus	Enlarged vestibular aqueduct, Widely-spaced incisors, Brachydactyly	ORPHA:79414
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Temporomandibular joint ankylosis, Decreased mobi...	OMIM:164900
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Achilles tendon contracture, High palate, Respiratory failure, Cleft palate	OMIM:620249
Duane Retraction Syndrome	Hearing impairment, Micrognathia, Sensorineural hearing impairment, Aplasia/Hypoplasia of the thu...	ORPHA:233
Larsen Syndrome	Hypoplastic cervical vertebrae, Hearing impairment, Talipes equinovarus, Hip dislocation, Short m...	OMIM:150250
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging...	ORPHA:530
Hypophosphatemic Bone Disease	Osteomalacia, Rickets, Bowing of the legs	OMIM:146350
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Wiedemann-Steiner Syndrome	Low-set ears, Wide nasal bridge, Rhizomelia, Clinodactyly, Long philtrum, Thin upper lip vermilio...	ORPHA:319182
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Long phil...	OMIM:607330
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, B...	OMIM:601701
Alg1-Cdg	Protein-losing enteropathy, Limitation of joint mobility, Respiratory failure	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Arthritis	OMIM:619423
Brucellosis	Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha...	ORPHA:1304
Cardiofaciocutaneous Syndrome	Optic atrophy, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Low-set, ...	ORPHA:1340
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:352665
Agnathia-Otocephaly Complex	Low-set ears, Microglossia, Conductive hearing impairment, Tracheomalacia, Aglossia, Micrognathia...	OMIM:202650
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Unilateral radial aplasia, Eruption failure, Long philtrum, Dental ...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Everted lower lip vermili...	OMIM:620450
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis	OMIM:614204
Waardenburg Syndrome Type 1	Wide nasal bridge, Hearing impairment, Cleft upper lip, Underdeveloped nasal alae, Congenital sen...	ORPHA:894
Postsynaptic Congenital Myasthenic Syndromes	High palate, Facial palsy, Respiratory failure	ORPHA:98913
Mogs-Cdg	Optic atrophy, Retrognathia, Overlapping fingers, Prominent occiput, Sensorineural hearing impair...	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Optic atrophy, Brachycephaly, Depressed nasal bridge	OMIM:612379
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Hip contracture, Sensorineural hearing impairment, Talipes equinovarus...	OMIM:617137
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormal dental morphology, Hypophosphatemic rickets, Cranial asymmetry, Abnormal fin...	OMIM:163200
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Catel-Manzke Syndrome	Low-set ears, Narrow naris, Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow ...	OMIM:616145
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Pyloric stenosis, Conical tooth, Cupped ear, Short thum...	OMIM:263750
Aspartylglucosaminuria	Wide nasal bridge, Abnormality of the dentition, Carious teeth, Joint stiffness, Gingival overgro...	ORPHA:93
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Long philtrum, Frontal bossing, Recurrent otitis media, Joint hypermobili...	OMIM:605309
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Hearing impairment, Absent cupid's bow, Bulbous nose, Ce...	ORPHA:284169
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Plagiocephaly, Recurrent otitis media, Joint hypermobility, 2-3 toe synda...	OMIM:261990
Cornelia De Lange Syndrome 6	Low-set ears, Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal...	OMIM:620568
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radi...	OMIM:134780
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Choanal atresia, Plagiocephaly, Retrognathia, Wide nose, Submucous cleft hard palat...	OMIM:619227
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Large fleshy ears, Narrow mouth, High palate, Anal atresia, Short foot, Short nose, P...	ORPHA:280633
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial diplegia, Tented upper lip vermilion, Joint hypermobility, High palate, Flexion contractur...	ORPHA:98905
Fraser Syndrome 2	Low-set ears, Atresia of the external auditory canal, Underdeveloped nasal alae, Intestinal malro...	OMIM:617666
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju...	ORPHA:575
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Coxa vara	OMIM:601344
Adult-Onset Still Disease	Hepatitis, Interstitial pneumonitis, Skin rash, Joint swelling, Arthritis, Arthralgia/arthritis, ...	ORPHA:829
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Eczematoid dermatitis, Osteomyelitis,...	ORPHA:2796
Aicardi Syndrome	Optic atrophy, Small hand, Plagiocephaly, Block vertebrae, Optic disc coloboma, Cleft upper lip, ...	ORPHA:50
Costello Syndrome	Low-set ears, Pyloric stenosis, Depressed nasal bridge, Tracheomalacia, Thick lower lip vermilion...	OMIM:218040
Jacobsen Syndrome	Low-set ears, Optic atrophy, Pyloric stenosis, Depressed nasal bridge, Trigonocephaly, Anteverted...	OMIM:147791
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Micrognathia, Abnormality...	OMIM:256600
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Overlapping toe, Overlapping fingers, Prominent na...	ORPHA:464738
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Epistaxis, Epiphyseal stippling, Joint hemorrhage, Short nose	OMIM:277450
Familial Mediterranean Fever	Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Osteoarthritis, Arthritis, Pericarditis	ORPHA:342
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper...	ORPHA:284984
Jacobsen Syndrome	Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Finger syndactyly, Long hallux, Duodenal atre...	ORPHA:2308
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Deeah Syndrome	Low-set ears, Narrow palate, Neonatal respiratory distress, Hearing impairment, Retrognathia, Lon...	OMIM:619004
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Hypoglossia-Hypodactylia	Microglossia, Adactyly, Aglossia, Narrow mouth, Split hand	OMIM:103300
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hearing impairment, Hyperplasia of the...	OMIM:613406
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Long philtrum, Thick vermilion border	ORPHA:833
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Velopharyngea...	OMIM:154400
1P36 Deletion Syndrome	Narrow mouth, Sensorineural hearing impairment, Abnormal intestine morphology, Foot polydactyly, ...	ORPHA:1606
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Low-set, posteriorly rot...	ORPHA:391474
Jaberi-Elahi Syndrome	Low-set ears, Hand clenching, Optic atrophy, Depressed nasal bridge, Joint stiffness, Joint hyper...	OMIM:617988
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Talipes equinovarus, 2-3 finge...	OMIM:312870
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Broad thumb, Intestinal malrotation, Bilateral cleft palate, Bifid tongue, Clinodactyly of the 5t...	ORPHA:2001
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Pursed lips, Aglossia, ...	OMIM:241310
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Thickened ears, H...	ORPHA:444077
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Scaphocephaly, Prominent nose, Abnormal cortical bone morphology, Prominence o...	OMIM:614886
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory...	ORPHA:2052
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Scedosporiosis	Pneumonia, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Endocarditis, Perica...	ORPHA:449280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 2nd finger, Sensorineural hearing impairment, Thin upper lip vermilion, Ul...	OMIM:616263
Rapp-Hodgkin Syndrome	Carious teeth, Hearing impairment, Velopharyngeal insufficiency, Recurrent otitis media, Narrow m...	OMIM:129400
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Broad thumb, Toe syndactyly, Finger syndactyly, Talipes equinovarus, S...	ORPHA:373
Holoprosencephaly 9	Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, M...	OMIM:610829
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B...	OMIM:616100
Lig4 Syndrome	Wide nasal bridge, Prominent nose, Chronic sinusitis, Brachycephaly, Clinodactyly of the 5th finger	OMIM:606593
Muscular Dystrophy, Congenital, With Or Without Seizures	Interictal epileptiform activity, Respiratory failure, Progressive hearing impairment	OMIM:620166
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Arthrogryposis multiplex congenita, Internally rotated shoulders, Recurrent otitis ...	OMIM:619503
Cerebrocostomandibular Syndrome	Posterior rib gap, Neonatal respiratory distress, Conductive hearing impairment, Tracheomalacia, ...	ORPHA:1393
Gaucher Disease	Osteopenia, Joint dislocation, Hepatitis, Delayed skeletal maturation, Osteolysis, Pathologic fra...	ORPHA:355
Alg12-Cdg	Posterior plagiocephaly, Sandal gap, Intestinal malrotation, Overlapping fingers, Micrognathia, P...	ORPHA:79324
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Conductive hearing impairment, Osteolysis, Hip contracture, Abnormal palate morpho...	ORPHA:3042
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Depressed nasal bridge, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epig...	OMIM:617088
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor...	OMIM:252600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613954
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Cardiorespiratory arrest, Abnormal pinna morphology, Respiratory failure,...	ORPHA:26791
White-Kernohan Syndrome	Low-set ears, Depressed nasal bridge, Retrognathia, Anteriorly placed anus, Underdeveloped nasal ...	OMIM:619426
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Short foot, Plagiocephaly, Short palm	OMIM:614563
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Recurrent otitis media, Genu valgum, Micrognathia, Talip...	OMIM:309350
Bifid Nose With Or Without Anorectal And Renal Anomalies	Low-set ears, Widely-spaced maxillary central incisors, Anteriorly placed anus, Bulbous nose, Sho...	OMIM:608980
Congenital Disorder Of Deglycosylation 1	Low-set ears, Small hand, Anteverted nares, Open mouth, Brachycephaly, Osteoporosis, Decreased se...	OMIM:615273
Diamond-Blackfan Anemia 7	Osteopenia, Choanal atresia, Atresia of the external auditory canal, Short thumb, Hearing impairm...	OMIM:612562
Gaucher Disease, Perinatal Lethal	Low-set ears, Depressed nasal bridge, Retrognathia, Everted upper lip vermilion, Anteverted nares...	OMIM:608013
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Congenital Myopathy 17	Low-set ears, Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Respiratory insuf...	OMIM:618975
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Genu valgum, Open mouth, EEG with central focal spikes, Talipes equinovar...	OMIM:301066
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
Brittle Cornea Syndrome	Abnormality of the dentition, Abnormal epiphysis morphology, Conductive hearing impairment, Incre...	ORPHA:90354
Van Esch-O'Driscoll Syndrome	Bifid uvula, Depressed nasal bridge, Retrognathia, Downturned corners of mouth, Clinodactyly of t...	OMIM:301030
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n...	ORPHA:2315
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Short ribs, Orofacial cleft, Brachydactyly, Short long bone, Postaxial hand polydact...	OMIM:615630
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Esophagitis, Abnormal fibula morp...	ORPHA:198
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Finger syndactyly, Hearing impairmen...	ORPHA:2907
Severe Hemophilia A	Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join...	ORPHA:169802
Congenital Myopathy 13	Low-set ears, Conductive hearing impairment, Downturned corners of mouth, Micrognathia, Brachycep...	OMIM:255995
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Arthrogryposis multiplex congenita, Hearing impairment, Long nasal bridge, Carpal s...	OMIM:178110
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contracture, ...	OMIM:617591
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Retrognathia, Furrowed tongue, Anteverted nares, Tented upper lip vermilion, 2-3 to...	OMIM:616449
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Broad columella, Widely spaced teeth, Open m...	OMIM:617865
Chops Syndrome	High, narrow palate, Optic atrophy, Tracheomalacia, Hearing impairment, Downturned corners of mou...	OMIM:616368
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Deafness-Lymphedema-Leukemia Syndrome	Vertigo, Respiratory failure, Chronic otitis media, Sensorineural hearing impairment	ORPHA:3226
Mixed Connective Tissue Disease	Joint stiffness, Joint swelling, Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arth...	ORPHA:809
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Broad thumb, Toe syndactyly, Long philtrum, Ankyloglossia, Bulbous nose, Clino...	ORPHA:250989
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure	OMIM:605711
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Sensorineural hearing impairment, Ab...	ORPHA:818
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, Aganglionic megacolon, T...	OMIM:600501
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Dental malocclusion, Hearing impairment, Aneurysmal bone cys...	ORPHA:562
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Aplasia/Hypoplasia of the patella, Sensorineural ...	OMIM:617063
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Membranous nephropathy, Recurrent sinusitis, Arthritis	OMIM:615559
Mullegama-Klein-Martinez Syndrome	Low-set ears, Atresia of the external auditory canal, Micrognathia, Sensorineural hearing impairm...	OMIM:301022
Coffin-Siris Syndrome	Short 5th finger, Wide nasal base, Recurrent upper respiratory tract infections, Broad nasal tip,...	ORPHA:1465
Fetal Akinesia Deformation Sequence 1	Low-set ears, Thin ribs, Micrognathia, Narrow mouth, Hip contracture, Talipes equinovarus, Elbow ...	OMIM:208150
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Delayed skeletal maturation, Recurrent otitis media, Pyoderma, Infectious encephalitis...	OMIM:307200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Uveitis,...	OMIM:614700
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Retrognathia, Sen...	OMIM:602588
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Small hand, Plagiocephaly, Optic nerve hypoplasia, Genu valgum, Micrognathia, Senso...	ORPHA:300570
Orofaciodigital Syndrome X	Finger aplasia, Depressed nasal bridge, Retrognathia, Preaxial hand polydactyly, Fibular aplasia,...	OMIM:165590
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Aplasia/Hypoplasia involving the nose, Low-set, posteriorly rotated ears, Narrow in...	ORPHA:990
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Brachyturricephaly, EEG with focal sharp waves, EEG with spike-wave complexes, Equinus calcaneus,...	ORPHA:522077
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Limitation of joint mobility, Arthritis	ORPHA:343
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Wilson Disease	Hepatitis, Pathologic fracture, Joint swelling, Arthritis, Acute hepatitis, Bone pain	ORPHA:905
Stickler Syndrome Type 2	Cleft palate	ORPHA:90654
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Death in childhood, Sensorineural hearing impairment, Respiratory insufficiency du...	OMIM:220110
Cerebrotendinous Xanthomatosis	Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,...	ORPHA:909
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Hearing impairment, Death in childhood, Death in adolescence, Osteoporosis	OMIM:560000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Death in childhood	OMIM:615838
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczematoid dermatitis	OMIM:617780
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Atresia of the external auditory canal, ...	ORPHA:672
Nijmegen Breakage Syndrome	Depressed nasal bridge, Anal stenosis, Retrognathia, Prominent nose, Prominent nasal bridge, Hear...	ORPHA:647
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Choreoacanthocytosis	Temporomandibular joint crepitus, Decreased amplitude of sensory action potentials, Protruding to...	ORPHA:2388
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Bilateral conductive hearing imp...	ORPHA:488642
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Coronal craniosynostosis, Pyloric stenosis, Wide nasal bridge, Thin ribs, Brachytur...	ORPHA:83617
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Death in infancy, Neonatal death, Clubbing, Respiratory failure	OMIM:265120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Mandibular prognathia, Short distal phalanx of the thumb, Hamartomatous stomac...	OMIM:109400
Facioscapulohumeral Muscular Dystrophy 1	Facial palsy, Tongue atrophy, Sensorineural hearing impairment	OMIM:158900
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Posterior plagiocephaly, Recurrent otitis media, Ankyloglossia, Micrognathia, Senso...	OMIM:619841
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving bones of the skull, Plagiocephaly, Broad nasal tip, Short lingual fr...	ORPHA:1521
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Ankle flexion contracture, Dental crowding, Elbow flexion contracture...	ORPHA:2020
Takayasu Arteritis	Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis	ORPHA:3287
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De...	ORPHA:206436
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Thin upper lip v...	OMIM:615803
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Restrictive Dermopathy 1	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Choanal atresia, Submucous...	OMIM:275210
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of the eye, Conju...	ORPHA:36412
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Nievergelt Syndrome	Genu valgum, Radioulnar synostosis, Talipes equinovarus, Metatarsus adductus, Tarsal synostosis, ...	OMIM:163400
Antisynthetase Syndrome	Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis	ORPHA:81
3Mc Syndrome 1	Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Caudal append...	OMIM:257920
Cockayne Syndrome Type 1	Optic atrophy, Abnormality of the dentition, Foot joint contracture, Hearing impairment, Widely s...	ORPHA:90321
Bor Syndrome	Atresia of the external auditory canal, Branchial cyst, Hearing impairment, Retrognathia, Stenosi...	ORPHA:107
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Wide mouth, Mandibular prognathia, Thick vermilion border	ORPHA:85290
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Metacarpal periosteal thickening, Metatarsal periosteal thickening, Osteolyt...	OMIM:161700
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Snakebite Envenomation	Gingival bleeding, Epistaxis, Respiratory failure	ORPHA:449285
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Lobulated tongue, Low-set, posterior...	ORPHA:434179
Pendred Syndrome	Respiratory insufficiency, Vertigo, Tracheal stenosis, Sensorineural hearing impairment, Enlarged...	ORPHA:705
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Low-set ears, Abnormali...	ORPHA:1596
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis	ORPHA:411543
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	2-3 toe cutaneous syndactyly, Low-set ears, Retrognathia, Micrognathia, Narrow mouth, Down-slopin...	OMIM:301091
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Dental crowding, Optic nerve dysplasia, Brachycephaly, Short philtrum, Frontal bos...	OMIM:617296
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Plagiocephaly, Open mouth, Tented upper lip vermilion, Joint hypermobility, Thin up...	OMIM:616579
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Duplication Of The Pituitary Gland	Brachyturricephaly, Hearing impairment, Retrognathia, Volvulus, Abnormality of joint mobility, Ab...	ORPHA:314621
Autoimmune Hepatitis	Inflammation of the large intestine, Sclerosing cholangitis, Glomerulonephritis, Arthritis, Acute...	ORPHA:2137
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Skin rash, Osteoarthritis	ORPHA:2298
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Difficulty in tongue movements, Hearing impairment, Respiratory insufficiency, Respiratory insuff...	ORPHA:308552
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, EEG with generalized sharp slow waves, EEG with focal sharp waves,...	ORPHA:79243
Lethal Congenital Contracture Syndrome 2	Micrognathia, Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Atresia of the external a...	OMIM:620186
Behcet Syndrome	Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Choanal atresia, Underdeveloped nasal alae, Respiratory insuf...	ORPHA:163979
Viss Syndrome	Low-set ears, Exostosis of the external auditory canal, Genu valgum, Micrognathia, Cleft soft pal...	OMIM:619472
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Limited elbow extension, Equinus calcaneus, Joint hype...	OMIM:154700
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood, Sensorineural hearing impairment	OMIM:619847
Relapsing Polychondritis	Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphthous stomatitis, Chond...	ORPHA:728
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Death in childhood, Death in infancy, Joint contracture, High pala...	OMIM:620278
Noonan Syndrome 3	Low-set ears, Hypoplastic nasal bridge, Scaphocephaly, Anteverted nares, Posteriorly rotated ears...	OMIM:609942
Myopathy, Myofibrillar, 7	Shoulder flexion contracture, Limited hip extension, Elbow flexion contracture, Multiple joint co...	OMIM:617114
Asbestos Intoxication	Respiratory failure, Clubbing of fingers	ORPHA:2302
Branchiootic Syndrome	Abnormality of the outer ear, Branchial fistula, Hearing impairment, Conductive hearing impairmen...	ORPHA:52429
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Enlarged vestibular aqueduct, Tarsal syn...	OMIM:157800
Slc39A8-Cdg	Low-set ears, Osteopenia, Cutaneous syndactyly of toes, Hearing impairment, Elbow flexion contrac...	ORPHA:468699
Wolf-Hirschhorn Syndrome	Micrognathia, Sensorineural hearing impairment, Radioulnar synostosis, Talipes equinovarus, Short...	OMIM:194190
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Orofaciodigital Syndrome Xiv	Low-set ears, Microretrognathia, Natal tooth, Broad hallux, Optic disc coloboma, Preaxial polydac...	OMIM:615948
Native American Myopathy	Bifid uvula, Conductive hearing impairment, Congenital contracture, Downturned corners of mouth, ...	ORPHA:168572
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Joint swelling, Arthropathy, Abnormal metacarpophalangeal joint morphology, Arth...	ORPHA:465508
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Finge...	ORPHA:1071
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d...	ORPHA:183675
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op...	ORPHA:1215
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recur...	OMIM:150230
Steinfeld Syndrome	Bifid uvula, Hearing impairment, Median cleft palate, Missing ribs, Aplasia/Hypoplasia of the thu...	OMIM:184705
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, H...	OMIM:616462
Khan-Khan-Katsanis Syndrome	Clinodactyly, Micrognathia, Tented upper lip vermilion, Sensorineural hearing impairment, Postaxi...	OMIM:618460
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Respiratory failure, Vestibular areflexia	ORPHA:3240
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo...	ORPHA:36234
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Postaxial hand polydactyly...	OMIM:611561
Wilson Disease	Chondrocalcinosis, Osteomalacia, Joint hypermobility, Atypical or prolonged hepatitis, Osteoarthr...	OMIM:277900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis	OMIM:304790
Kid Syndrome	Posterior blepharitis, Folliculitis, Acne inversa, Patellar hypoplasia, Keratitis, Psoriasiform d...	ORPHA:477
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join...	OMIM:613795
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Classical Ehlers-Danlos Syndrome	Osteopenia, Shoulder dislocation, Limb pain, Joint swelling, Generalized joint hypermobility, Tal...	ORPHA:287
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Retrognathia, Downturned corners of mouth, Short long bone, Short philtrum, Po...	OMIM:301110
Rheumatic Fever	Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis	ORPHA:3099
Okamoto Syndrome	Low-set ears, Wide nasal bridge, Abnormal helix morphology, Anal stenosis, Exaggerated median ton...	ORPHA:2729
Amyotrophic Lateral Sclerosis	Xerostomia, Amyotrophic lateral sclerosis, Motor neuron atrophy, Tongue atrophy, Respiratory failure	ORPHA:803
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Hutchinson-Gilford Progeria Syndrome	Hip dislocation, Limitation of joint mobility, Limited hip movement, Joint stiffness, Limitation ...	ORPHA:740
Craniofacioskeletal Syndrome	Choanal atresia, Small hand, Tracheal stenosis, Micrognathia, Hypoplastic frontal sinuses, Thin u...	OMIM:300712
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle pha...	ORPHA:319675
Autosomal Dominant Popliteal Pterygium Syndrome	Choanal atresia, Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Lip pit, Joint stiffness,...	ORPHA:1300
Brain Malformations With Or Without Urinary Tract Defects	Low-set ears, Anteverted nares, Narrow mouth, Thin upper lip vermilion, Overfolded helix, Short nose	OMIM:613735
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Everted lower lip vermilion	OMIM:617768
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Respiratory failure	OMIM:618233
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Arachnod...	OMIM:201750
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Posterior plagiocephaly, Short lower limbs, Abnormal fibular epiphysis...	ORPHA:96190
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure, Hearing impairment	OMIM:620327
Stromme Syndrome	Low-set ears, Wide nasal bridge, Preaxial polydactyly, Intestinal malrotation, Short columella, M...	OMIM:243605
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
X-Linked Intellectual Disability, Cantagrel Type	Short philtrum, Tented upper lip vermilion, Short nose	ORPHA:85277
Ogden Syndrome	Low-set ears, Flared nostrils, Everted upper lip vermilion, Recurrent otitis media, Thick upper l...	OMIM:300855
Faciocardiorenal Syndrome	Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Narrow mouth, Protruding ear, Smooth...	ORPHA:1973
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Achilles tendon contracture	OMIM:603689
Overlap Myositis	Rheumatoid arthritis, Finger swelling, Limb pain, Subluxation of the small joints of the hand, Ar...	ORPHA:206572
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Achilles tendon contracture, Flexion contractur...	OMIM:310200
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Retrognathia, Anteverted nares, Short nose, Hypoplasia of teeth, Macrotia	OMIM:234050
Chromosome 1P36 Deletion Syndrome, Proximal	Low-set ears, Bifid nasal tip, Cleft lip, Clinodactyly, Anteverted nares, Micrognathia, Parietal ...	OMIM:619343
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Optic atrophy, Broad alveolar ridges, Cleft lip, Choanal atresia, Duodenal atresia,...	OMIM:616975
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Neonatal respiratory distress, Cleft lip, Mec...	OMIM:265380
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Bilateral sensorineural hearing impairment, Rickets	OMIM:602722
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Abnormal crani...	ORPHA:138
Trichothiodystrophy 1, Photosensitive	Retrognathia, Intestinal obstruction, Death in infancy, Protruding ear, Triangular mouth, Short n...	OMIM:601675
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Erythroderma, Eczematoid dermatitis	OMIM:619510
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:263000
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Malar flattening, Concave nasal ridge, Macroglossia, Fr...	OMIM:613038
Galloway-Mowat Syndrome 4	Protruding ear, Plagiocephaly, Tapered finger	OMIM:617730
Short Stature, Microcephaly, And Endocrine Dysfunction	Tooth malposition, Broad nasal tip, Clinodactyly, Prominent nasal bridge, Sensorineural hearing i...	OMIM:616541
Fucosidosis	Abnormality of the dentition, Brachycephaly, Hearing impairment	ORPHA:349
Adiposis Dolorosa	Recurrent skin infections, Arthritis	ORPHA:36397
Spondyloenchondrodysplasia	Pneumonia, Short distal phalanx of finger, Hepatitis, Lower limb pain, Skin rash, Limb undergrowt...	ORPHA:1855
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Anteverted nares, Gingival overgr...	ORPHA:769
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Optic atrophy, Tongue fasciculations, Plagiocephaly, Frontal bossing, Widely spaced teeth, Respir...	OMIM:617193
Microgastria-Limb Reduction Defect Syndrome	Esophagitis, Amelia, Perineal fistula, Abnormal metacarpal morphology, Rectal atresia, Abnormal m...	ORPHA:2538
Chikungunya	Joint stiffness, Joint swelling, Skin rash, Maculopapular exanthema, Synovitis, Crusting erythema...	ORPHA:324625
Cronkhite-Canada Syndrome	Furrowed tongue, Stomach cancer, Intestinal polyposis, Tapered finger, Hypogeusia, Hamartomatous ...	ORPHA:2930
6Q Terminal Deletion Syndrome	High, narrow palate, Plagiocephaly, Clinodactyly, Low-set, posteriorly rotated ears, Micrognathia...	ORPHA:75857
Glycogen Storage Disease Due To Acid Maltase Deficiency	Macroglossia, Difficulty in tongue movements, Hearing impairment, Respiratory insufficiency, Resp...	ORPHA:365
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bifid nasal tip, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilio...	OMIM:618874
Developmental And Epileptic Encephalopathy 65	EEG with burst suppression, Hypsarrhythmia, Plagiocephaly, Tented upper lip vermilion	OMIM:618008
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Depressed nasal bridge, Hearing impairment, Gout, Death in childhood, Sensorineural...	OMIM:300661
Bloom Syndrome	Retrognathia, Neoplasm of the colon, Micrognathia, Stomach cancer, Malar flattening, Otitis media...	ORPHA:125
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Dental crowding, Plagiocephaly, Frontal bossing	OMIM:619264
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule	ORPHA:48104
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Tongue fasciculations, Difficulty in tongue movements, Facial paralysis, Decreased...	ORPHA:99949
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Death in infancy, Neonatal death, Clubbing, Respiratory failure	OMIM:610921
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Respiratory failure, Respiratory insufficiency	ORPHA:746
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Ileal atresia, Long philtrum, Joint stiffness, Microg...	OMIM:618820
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Ulnar deviation of finger, Plagiocephaly, Hypoplasia of the maxilla, Long ph...	ORPHA:1101
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Broad nasal tip, Downturned corners of mouth, Long philtrum, Anteverted nares, Mic...	OMIM:618548
Hypermobile Ehlers-Danlos Syndrome	Hip dislocation, Limitation of joint mobility, Elbow dislocation, Joint dislocation, Abnormality ...	ORPHA:285
Acromegaly	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Large hands, Ost...	ORPHA:963
Ramos-Arroyo Syndrome	Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Anteverted nares...	ORPHA:1051
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Ankyloglossia, Genu valgum, Talipes equinovarus, Hypsarrhythmia, Bilateral se...	OMIM:619475
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Arthritis, Viral hepatitis	ORPHA:91138
Dowling-Degos Disease	Acne inversa, Arthritis	ORPHA:79145
Generalized Pustular Psoriasis	Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis	ORPHA:247353
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Rickets, Hearing impairment, Sensorineural hearing impairment, Bilateral sensorine...	OMIM:268315
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A...	ORPHA:228119
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	EEG with multifocal slow activity, Short nose	ORPHA:289266
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Recurrent otitis media, Narrow mouth, Synovitis, Absent earlobe, Hypop...	ORPHA:3455
Pallister-Killian Syndrome	Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, Micrognathia, Everted l...	OMIM:601803
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis	ORPHA:220393
Hyperuricemia, Hprt-Related	Podagra	OMIM:300323
Toriello-Lacassie-Droste Syndrome	Hearing impairment, Anteverted nares, Aganglionic megacolon, Abnormality of the ear, Brachydactyl...	ORPHA:3339
Poliomyelitis	Stiff neck, Abnormal motor nerve conduction velocity, Paralytic ileus, Respiratory failure, Respi...	ORPHA:2912
Faundes-Banka Syndrome	Low-set ears, Plagiocephaly, Cupped ear, Conductive hearing impairment, Underdeveloped nasal alae...	OMIM:619376
Leigh Syndrome	Optic atrophy, Multiple joint contractures, Sensorineural hearing impairment, Hypsarrhythmia, Res...	ORPHA:506
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Midnasal sten...	ORPHA:280200
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Hearing impairment, Respiratory insufficiency, Respiratory failure requiri...	OMIM:211530
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Brachycep...	ORPHA:500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Low-set ears, Bifid uvula, Wide nasal bridge, Plagiocephaly, Cupped ear, Broad nasal tip, Narrow ...	OMIM:619480
Fraser Syndrome 1	Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal...	OMIM:219000
Diamond-Blackfan Anemia 8	Thick upper lip vermilion, Short nose, Wide nasal bridge	OMIM:612563
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ...	OMIM:122880
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Protruding ear, Everted lower lip vermilion, Concave nasal ridge, Short foot, Abno...	OMIM:615471
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Farber Disease	Short toe, Short finger, Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the ...	ORPHA:333
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Underdeveloped nasal alae, Midline ...	OMIM:229400
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Short nasal sep...	OMIM:113620
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr...	ORPHA:580
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Carious teeth, Broad toe, Long nose, High palate, Short foot, Short nose, Short 5th...	OMIM:619522
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cond...	ORPHA:306542
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Autism, Susceptibility To, X-Linked 2	Plagiocephaly, EEG abnormality	OMIM:300495
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration	ORPHA:95433
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megac...	OMIM:609136
Somatomammotropinoma	Macrodactyly, Joint swelling, Cortical diaphyseal thickening of the upper limbs, Large hands, Ost...	ORPHA:314769
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Clinodactyly, Broad fingertip, Celiac disease, Dislocated radial hea...	ORPHA:2044
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinusitis, Tubuloin...	ORPHA:183
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Thick lower lip vermilion, Large earlobe, EEG with burst suppression, Smooth philt...	OMIM:618792
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Respiratory insufficiency, Intestinal malrotation, Joint hypermobility, Thin...	OMIM:613658
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Posta...	OMIM:615503
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607748
Opitz Gbbb Syndrome	Low-set ears, Wide nasal bridge, Cleft lip, Natal tooth, Hearing impairment, Tracheomalacia, Long...	ORPHA:2745
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Hearing impairment, Abnormal earlobe morphology, Retrognathia, Abnormal dental...	ORPHA:2556
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Malar rash, Skin rash, Myositis, Arthritis	ORPHA:93552
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory failure, Respiratory insufficiency, Sensorineural hearing impairment	OMIM:618329
Fanconi-Bickel Syndrome	Bowing of the long bones, Osteopenia, Rickets	ORPHA:2088
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Midclavicular aplasia, Foot polydactyly, Short metacarpal, Broad na...	OMIM:305600
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure	OMIM:620326
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Abnormal oral mucosa morphology, Erosion of oral mucosa, Mitten de...	ORPHA:79404
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Undetectable visual evoked potentials, Respiratory insufficiency, Death in...	OMIM:252010
Localized Scleroderma	Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroiditis, Arthritis, Flexion co...	ORPHA:90289
Whipple Disease	Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis	ORPHA:3452
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth	ORPHA:1839
Immunodeficiency 67	Septic arthritis	OMIM:607676
Riddle Syndrome	Neonatal asphyxia, Otitis media, Chronic sinusitis, Recurrent sinusitis, Arthritis, Respiratory f...	ORPHA:420741
Subcorneal Pustular Dermatosis	Pustule, Rheumatoid arthritis	ORPHA:48377
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Fat malabsorption, Rickets, Epistaxis	OMIM:211600
Williams Syndrome	Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Death in early adultho...	ORPHA:904
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Chronic sinusitis, Sensorineural hearing impairment, Short ribs, Re...	OMIM:615636
Polymyositis	Chondrocalcinosis, Arthritis, Pericarditis	ORPHA:732
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ...	OMIM:615512
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Hearing impairment, Anteverted nares, Cleft soft palate, Micrognathia, Submuco...	ORPHA:2282
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Hartsfield Syndrome	Low-set ears, Hypoplasia of the frontal bone, Ectrodactyly, Cleft upper lip, Wide nose, Median cl...	OMIM:615465
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j...	ORPHA:32960
Brain-Lung-Thyroid Syndrome	Hypodontia, Neonatal respiratory distress, Respiratory failure, Sensorineural hearing impairment	ORPHA:209905
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Respiratory failure	ORPHA:88618
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Glycogen Storage Disease Vii	Gout	OMIM:232800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Broad nasal tip, Short 5th toe, 2-4 toe cutaneous syndactyly, Hearing impairmen...	ORPHA:268261
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Bazex-Dupre-Christol Syndrome	Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Narrow nasal ridge, Low hanging ...	OMIM:301845
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Joint contracture	OMIM:616881
Dihydropyrimidinase Deficiency	Talipes equinovarus, Anal atresia, Short phalanx of finger, Plagiocephaly	OMIM:222748
Treacher Collins Syndrome 2	Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th...	OMIM:613717
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Houge-Janssens Syndrome 3	Plagiocephaly, Broad nasal tip, High palate, Short philtrum, Frontal bossing	OMIM:618354
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgu...	OMIM:619321
Developmental And Epileptic Encephalopathy 1	EEG with burst suppression, Plagiocephaly, Hypsarrhythmia	OMIM:308350
Cadds	Micrognathia, Short nose, Sensorineural hearing impairment	ORPHA:369942
Congenital Tufting Enteropathy	Punctate keratitis, Arthritis	ORPHA:92050
Avian Influenza	Respiratory failure, Miscarriage	ORPHA:454836
Pneumocystosis	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency	ORPHA:723
1P21.3 Microdeletion Syndrome	Broad nasal tip, Long ear, Micrognathia, Joint hypermobility, Wide mouth, Short nose	ORPHA:293948
Meckel Syndrome, Type 1	Low-set ears, Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Bowing of the ...	OMIM:249000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Short distal phalanx of the thumb, Clinodactyly of th...	ORPHA:221139
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory failure, Clubbing, Respiratory insufficiency	OMIM:610913
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Anosmia, Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, J...	OMIM:619718
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Increased susceptibility to fractures, Sensorineural hearing impairment, E...	ORPHA:18
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,...	OMIM:610505
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Broad hallux, Anteverted nares, Open mouth, Joint hypermobility, Postaxial polydac...	ORPHA:457284
Cowden Syndrome 5	Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Furrowed tongue, Micrognathia...	OMIM:615108
Systemic Sclerosis	Finger swelling, Abnormal phalangeal joint morphology of the hand, Osteomyelitis, Joint swelling,...	ORPHA:90291
Abetalipoproteinemia	Osteopenia, Talipes equinovarus, Steatorrhea, Fat malabsorption, Respiratory failure	ORPHA:14
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:620296
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood	OMIM:617186
Lelis Syndrome	Hypodontia, Carious teeth, Furrowed tongue	ORPHA:140936
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, R...	OMIM:607625
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Xerostomia, Glossitis, Hamartomatous polyposis, Clubbing, Clubbing of...	OMIM:175500
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Chand Syndrome	Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton...	ORPHA:1401
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Congenital Syphilis	Pneumonia, Keratitis, Tibial bowing, Synovitis, Osteochondrosis, Pancreatitis, Myocarditis, Rhini...	ORPHA:499009
Catastrophic Antiphospholipid Syndrome	Myocarditis, Avascular necrosis, Arthritis	ORPHA:464343
Infant Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70587
Acute Lung Injury	Respiratory failure	ORPHA:178320
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,...	OMIM:301074
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Conical tooth...	OMIM:305100
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Anteverted nares, Micrognathia, Aplasia/Hypoplasi...	ORPHA:2306
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Thin upper lip vermilion, Talipes equinovarus, Glossitis, Tracheoesophageal fistula...	OMIM:277380
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl...	ORPHA:99027
Adult Acute Respiratory Distress Syndrome	Respiratory failure	ORPHA:70578
Cowden Syndrome 6	Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Furrowed tongue, Micrognathia...	OMIM:615109
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Malignant Atrophic Papulosis	Vertigo, Respiratory failure, Intestinal fistula, Intestinal perforation	ORPHA:679
Hydrolethalus Syndrome 1	Low-set ears, Stillbirth, Upper limb undergrowth, Preaxial hand polydactyly, Tracheal stenosis, M...	OMIM:236680
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Stippled calcification in carpal bones, Respiratory failure, Clubbing ...	ORPHA:60025
Celiac Disease, Susceptibility To, 1	Rickets, Celiac disease, Recurrent aphthous stomatitis, Enamel hypoplasia, Steatorrhea, Osteoporo...	OMIM:212750
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Williams-Beuren Syndrome	Recurrent otitis media, Open mouth, Sensorineural hearing impairment, Radioulnar synostosis, Celi...	OMIM:194050
Shigellosis	Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis...	ORPHA:810
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Lymphatic Filariasis	Ankle swelling, Lymphadenitis, Orchitis, Knee osteoarthritis, Glomerulonephritis, Epididymitis	ORPHA:2035
Staphylococcal Necrotizing Pneumonia	Respiratory failure	ORPHA:36238
Giant Cell Arteritis	Joint stiffness, Arthritis, Pericarditis	ORPHA:397
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Small hand, Plagiocephaly, Optic nerve hypoplasia, Hearing impairment, Finger ...	OMIM:620455
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure	ORPHA:542323
3-Methylglutaconic Aciduria Type 7	Respiratory failure	ORPHA:445038
Meckel Syndrome	Optic atrophy, Depressed nasal ridge, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongu...	ORPHA:564
Acute Interstitial Pneumonia	Respiratory failure	ORPHA:79126
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Hearing impairment, Abnormal motor nerve conduction velocity, Abno...	ORPHA:466768
Listeriosis	Hearing impairment, Stiff neck, Osteomyelitis, Septic arthritis, Respiratory failure, Miscarriage	ORPHA:533
Juvenile Dermatomyositis	Limitation of joint mobility, Skin rash, Myositis, Arthritis, Pericarditis	ORPHA:93672
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Plagiocephaly, Dental crowding, Synostosis involving the 1st metacarpal, Wid...	ORPHA:466791
Coccidioidomycosis	Pneumonia, Folliculitis, Osteomyelitis, Morbilliform rash, Skin rash, Peritonitis, Abnormal metac...	ORPHA:228123
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Proteus Syndrome	Low-set ears, Rib exostoses, Carious teeth, Finger syndactyly, Exostosis of the external auditory...	ORPHA:744
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Familial Mediterranean Fever	Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis	OMIM:249100
Spinocerebellar Ataxia Type 36	Vertigo, Tongue fasciculations, Tongue atrophy, Hearing impairment	ORPHA:276198
Hyper-Igd Syndrome	Lymphadenitis, Skin rash, Serositis, Arthritis, Chronic oral candidiasis	OMIM:260920
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Frontal bossing, Rickets, Rachitic rosary	OMIM:612089
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Sensorineural hearing impairment, Spontaneous, recurrent epistaxis, Brachycephaly, Hallux valgus,...	ORPHA:2072
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Difficulty in tongue movements, Respiratory insufficiency, Sensorineural hearing i...	ORPHA:99956
Band Heterotopia	Plagiocephaly	OMIM:600348
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Renal And Mullerian Duct Hypoplasia	Micrognathia, Frontal bossing, Short nose	OMIM:266810
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Cowden Syndrome 1	Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Furrowed tongue, Micrognathia...	OMIM:158350
Common Variable Immunodeficiency	Otitis media, Brachycephaly, Gastrointestinal stroma tumor, Anal atresia, Chronic otitis media	ORPHA:1572
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Behçet Disease	Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis...	ORPHA:117
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Sensorineural hearing impairment, Respirato...	OMIM:617248
Molybdenum Cofactor Deficiency, Type B	Long philtrum, Neonatal death, Thick vermilion border, Frontal bossing, Short nose	OMIM:252160
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Pachyonychia Congenita 3	Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip	OMIM:615726
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Fat malabsorption, Rickets	ORPHA:79303
Simple Cryoglobulinemia	Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Pericarditis, Viral hepatitis	ORPHA:91139
Cowden Syndrome	Hearing impairment, Furrowed tongue, Bone cyst, Hamartomatous polyposis, Brachydactyly, Macroglos...	ORPHA:201
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529808
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607765
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Intestinal pseudo-obstruction, Respiratory insufficiency, Respi...	ORPHA:273
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Protein-losing enteropathy, Depressed nasal ridge, Micrognathia, Fat malabsorption,...	ORPHA:731
Cystinosis	Rickets	ORPHA:213
Mercury Poisoning	Respiratory failure	ORPHA:330021
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Aspartylglucosaminuria	Depressed nasal bridge, Thick lower lip vermilion, Pathologic fracture, Anteverted nares, Joint h...	OMIM:208400
Generalized Arterial Calcification Of Infancy	Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Osteomalacia, Abnormal hip j...	ORPHA:51608
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Inflammatory abnormality of the skin, Eczematoid dermatitis, Swelling of proximal...	ORPHA:3260
Mowat-Wilson Syndrome	Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Sensorineural hearing impairm...	ORPHA:2152
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Pustular rash, Hepatitis, Osteomalacia, Recurrent otitis media, Osteomyelitis, Joint s...	OMIM:619381
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczematoid dermatitis, Recurrent otitis media, Skin rash, Recurrent sinusitis, Hashimoto thyroidi...	OMIM:615688
Waardenburg Syndrome, Type 2E	Anosmia, Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear...	OMIM:611584
Blau Syndrome	Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl...	ORPHA:90340
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Acrodermatitis Enteropathica	Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis	ORPHA:37
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Rickets, Camptodactyly of finger, Osteomalacia, P...	OMIM:309000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Joint stiffness, Thick vermilion border, Macroglossia, Flexion contracture, Short ...	ORPHA:505248
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Otitis media,...	ORPHA:906
Hereditary Spherocytosis	Maculopapular exanthema, Gout	ORPHA:822
Primary Sjögren Syndrome	Arteritis, Parotitis, Chronic active hepatitis, Polyarticular arthropathy, Lymphocytic interstiti...	ORPHA:289390
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Joint dislocation, Periodontitis, Joint hypermobility, Talipes equino...	ORPHA:286
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Sitosterolemia 1	Arthritis	OMIM:210250
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Cystinosis, Nephropathic	Rachitic rosary, Rickets, Genu valgum, Hypophosphatemic rickets, Metaphyseal widening, Frontal bo...	OMIM:219800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdont...	OMIM:148210
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Optic atrophy, Short nose, Sensorineural hearing impairment	OMIM:614863
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Congenital sensorineural hearing impairment, Plagiocephaly, Optic nerve hypoplasia	ORPHA:45358
Congenital Disorder Of Glycosylation, Type Iiaa	Bilateral talipes equinovarus, Knee flexion contracture, Short long bone	OMIM:620454
Glycogen Storage Disease Ib	Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout	OMIM:232220
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Arthritis	OMIM:615846
Molybdenum Cofactor Deficiency, Type A	Short nose, Frontal bossing, Long philtrum, Thick vermilion border	OMIM:252150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hypermobility	ORPHA:93111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to...	ORPHA:79259
Hypomagnesemia 3, Renal	Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Short metaca...	OMIM:248250
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Depressed nasal bridge, Plagiocephaly, Hearing impairment, Tibial torsion, Talipe...	OMIM:613355
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Gastritis, Glomerulonephritis, Arthritis, Colitis, Pann...	ORPHA:3261
Congenital Tricuspid Valve Dysplasia	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:555874
Kawasaki Disease	Hepatitis, Skin rash, Cholecystitis, Arthritis, Myocarditis, Conjunctivitis, Cheilitis, Pericarditis	ORPHA:2331
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun...	ORPHA:707
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:618278
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis...	ORPHA:1435
Craniofacial Microsomia 1	Atresia of the external auditory canal, Unilateral external ear deformity, Underdeveloped tragus,...	OMIM:164210
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Clinodactyly, Finger syndactyly, Short thumb, Abnormal thumb morpho...	ORPHA:2363
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo...	ORPHA:158668
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Hand ...	ORPHA:567
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Glycogen Storage Disease Ic	Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis	OMIM:232240
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Lupus nephritis, Arthritis, Cheilitis, Serositis	ORPHA:536
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Posteriorly pla...	OMIM:306955
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Mucopolysaccharidosis Type 2, Severe Form	Limitation of joint mobility, Camptodactyly of finger, Diaphyseal undertubulation, Arthritis, Fle...	ORPHA:217085
Agel Amyloidosis	Xerostomia, Hearing impairment, Orthostatic hypotension due to autonomic dysfunction, Facial pals...	ORPHA:85448
Mucopolysaccharidosis Type 2, Attenuated Form	Limitation of joint mobility, Camptodactyly of finger, Diaphyseal undertubulation, Arthritis, Fle...	ORPHA:217093
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Colitis, Steatorrhea, Osteoporosis	ORPHA:309031
Niemann-Pick Disease Type C	Respiratory failure, Hearing impairment, Respiratory insufficiency	ORPHA:646
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Iridocyclitis, Clubbing, Arthritis, Bronchiectasis, Uveitis	OMIM:181000
Aicardi-Goutières Syndrome	Chilblains, Multiple joint contractures, Myositis, Arthritis, Panniculitis	ORPHA:51
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Respiratory failure	ORPHA:340
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Autoinflammatory Disease, Systemic, With Vasculitis	Atopic dermatitis, Parotitis, Colitis, Arthritis, Conjunctivitis, Epididymitis	OMIM:620376
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Osteomalacia	OMIM:600740
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Fabry Disease	Abnormal femur morphology, Reduced bone mineral density, Arthritis	ORPHA:324
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Hearing impairment, Erythematous oral mucosa	OMIM:158310
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormality...	ORPHA:642
Tetrasomy 9P	Small hand, Joint dislocation, Glue ear, Myositis, Talipes equinovarus, Small toe, Arthritis, Cli...	ORPHA:3310
Dermatomyositis	Chondrocalcinosis, Heliotrope rash, Skin rash, Myositis, Arthritis, Myocarditis, Pericarditis	ORPHA:221
Penile Agenesis	Depressed nasal bridge, Tracheoesophageal fistula, Rectal fistula, Bilateral talipes equinovarus,...	ORPHA:49
Marburg Hemorrhagic Fever	Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthema, Pericarditis	ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Pancreatitis, Myocarditis, Septic arthritis, Acute colitis	ORPHA:544482
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Nocardiosis	Osteomyelitis, Respiratory failure	ORPHA:31204
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Narrow mouth, Tinnitus, Narrow nasal ridge, Orthostatic hypotension, Short nose	OMIM:606721
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Keratoconjunctivitis sicca, Arthritis, Flexion contractu...	ORPHA:99921
Gaisböck Syndrome	Gout, Cholecystitis	ORPHA:90041
Norrie Disease	Optic atrophy, Abnormal helix morphology, Narrow nasal bridge, Malar flattening, Sensorineural he...	ORPHA:649
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Optic atrophy, Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Frontal bossing, Prominent occiput, EEG abnormality, Biparietal narrowing	ORPHA:2612
Tuberous Sclerosis Complex	Respiratory failure	ORPHA:805
Gitelman Syndrome	Tubulointerstitial nephritis, Chondrocalcinosis, Gout, Hashimoto thyroiditis	ORPHA:358
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Ganglioneuromatosis, Joint hypermobility, Aganglionic megacolon, Thic...	ORPHA:653
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Liver Disease, Severe Congenital	Protein-losing enteropathy, Depressed nasal bridge, Plagiocephaly, Recurrent otitis media, Chroni...	OMIM:619991
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Synovitis, Cubitus valgus, Brachydactyly	OMIM:163950
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Osteomalacia	ORPHA:405
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Microsporidiosis	Rhinitis, Osteomyelitis, Glossitis, Sinusitis	ORPHA:2552
Glucagonoma	Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction	ORPHA:97280
Carney Complex	Abnormal hard palate morphology, Paranasal sinus neoplasm, Esophageal neoplasm, Neoplasm of the r...	ORPHA:1359
Deafness, Autosomal Dominant 37	Sensorineural hearing impairment	OMIM:618533

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col11a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col11a1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Collagen XI regulates the acquisition of collagen fibril structure, organization and functional properties in tendon.	Matrix biology : journal of the International Society for Matrix Biology (September 2020)	Col11a1^em1(IMPC)Bay	PMC7722227

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Col11a1^{tm44767(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Col11a1^em1(IMPC)Bay	Exon Deletion	Mice
Col11a1^{tm44767(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Col11a1^{em2(IMPC)Wtsi}	Exon Deletion	Mice
Col11a1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Col11a1 MGI:88446

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Col11a1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data