Intellectual developmental disorder, autosomal dominant - PS156200 - 66 Entries
Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
1p36.11 | Coffin-Siris syndrome 2 | AD | 3 | 614607 | ARID1A | 603024 |
1q21.3 | White-Sutton syndrome | AD | 3 | 616364 | POGZ | 614787 |
1q21.3 | GAND syndrome | AD | 3 | 615074 | GATAD2B | 614998 |
1q22 | Intellectual developmental disorder, autosomal dominant 52 | AD | 3 | 617796 | ASH1L | 607999 |
1q44 | Intellectual developmental disorder, autosomal dominant 22 | AD | 3 | 612337 | ZBTB18 | 608433 |
2p25.3 | Intellectual developmental disorder, autosomal dominant 39 | AD | 3 | 616521 | MYT1L | 613084 |
2q11.2 | ?Intellectual developmental disorder, autosomal dominant 69 | AD | 3 | 617863 | LMAN2L | 609552 |
2q23.1 | Intellectual developmental disorder, autosomal dominant 1 | AD | 3 | 156200 | MBD5 | 611472 |
3p25.3 | Intellectual developmental disorder, autosomal dominant 23 | AD | 3 | 615761 | SETD5 | 615743 |
3p21.31 | Intellectual developmental disorder, autosomal dominant 70 | AD | 3 | 620157 | SETD2 | 612778 |
3q22.3 | Intellectual developmental disorder, autosomal dominant 47 | AD | 3 | 617635 | STAG1 | 604358 |
3q26.32 | Intellectual developmental disorder, autosomal dominant 41 | AD | 3 | 616944 | TBL1XR1 | 608628 |
3q27.1 | Intellectual developmental disorder 60 with seizures | AD | 3 | 618587 | AP2M1 | 601024 |
4q31.1 | Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities | AD | 3 | 617787 | NAA15 | 608000 |
5p15.2 | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | AD | 3 | 618825 | TRIO | 601893 |
5p15.2 | Intellectual developmental disorder, autosomal dominant 44, with microcephaly | AD | 3 | 617061 | TRIO | 601893 |
5q13.3 | Intellectual developmental disorder, autosomal dominant 34 | AD | 3 | 616351 | COL4A3BP | 604677 |
5q32 | Intellectual developmental disorder, autosomal dominant 53 | AD | 3 | 617798 | CAMK2A | 114078 |
5q33.2 | Intellectual developmental disorder, autosomal dominant 67 | AD | 3 | 619927 | GRIA1 | 138248 |
6p21.32 | Intellectual developmental disorder, autosomal dominant 5 | AD | 3 | 612621 | SYNGAP1 | 603384 |
6q13 | Intellectual developmental disorder, autosomal dominant 46 | AD | 3 | 617601 | KCNQ5 | 607357 |
6q14.3 | Intellectual developmental disorder, autosomal dominant 64 | AD | 3 | 619188 | ZNF292 | 616213 |
6q22.1 | Intellectual developmental disorder, autosomal dominant 55, with seizures | AD | 3 | 617831 | NUS1 | 610463 |
6q24.2 | Intellectual developmental disorder, autosomal dominant 43 | AD | 3 | 616977 | HIVEP2 | 143054 |
6q25.3 | Coffin-Siris syndrome 1 | AD | 3 | 135900 | ARID1B | 614556 |
7p22.1 | Intellectual developmental disorder, autosomal dominant 48 | AD | 3 | 617751 | RAC1 | 602048 |
7p13 | Intellectual developmental disorder, autosomal dominant 54 | AD | 3 | 617799 | CAMK2B | 607707 |
7q11.22 | Intellectual developmental disorder, autosomal dominant 26 | AD | 3 | 615834 | KIAA0442 | 607270 |
7q36.2 | Intellectual developmental disorder, autosomal dominant 33 | AD | 3 | 616311 | DPP6 | 126141 |
9p24 | Intellectual developmental disorder, autosomal dominant 2 | AD | 4 | 614113 | MRD2 | 614113 |
9q34.11 | Intellectual developmental disorder, autosomal dominant 58 | AD | 3 | 618106 | SET | 600960 |
9q34.3 | Kleefstra syndrome 1 | AD | 3 | 610253 | EHMT1 | 607001 |
10p15.3 | Intellectual developmental disorder, autosomal dominant 30 | AD | 3 | 616083 | ZMYND11 | 608668 |
10q22.2 | Intellectual developmental disorder, autosomal dominant 59 | AD | 3 | 618522 | CAMK2G | 602123 |
11p15.5 | Vulto-van Silfout-de Vries syndrome | AD | 3 | 615828 | DEAF1 | 602635 |
11q13.1 | Coffin-Siris syndrome 7 | AD | 3 | 618027 | DPF2 | 601671 |
11q13.1-q13.2 | Schuurs-Hoeijmakers syndrome | AD | 3 | 615009 | PACS1 | 607492 |
11q13.2 | Intellectual developmental disorder, autosomal dominant 51 | AD | 3 | 617788 | KMT5B | 610881 |
11q24.2 | Intellectual developmental disorder, autosomal dominant 4 | AD | 2 | 612581 | MRD4 | 612581 |
12p13.1 | Intellectual developmental disorder, autosomal dominant 6, with or without seizures | AD | 3 | 613970 | GRIN2B | 138252 |
12q12 | Coffin-Siris syndrome 6 | AD | 3 | 617808 | ARID2 | 609539 |
12q13.12 | Intellectual developmental disorder, autosomal dominant, FRA12A type | AD | 3 | 136630 | DIP2B | 611379 |
12q13.2 | Coffin-Siris syndrome 8 | AD | 3 | 618362 | SMARCC2 | 601734 |
12q21.33 | Intellectual developmental disorder, autosomal dominant 66 | AD | 3 | 619910 | ATP2B1 | 108731 |
14q11.2 | Intellectual developmental disorder, autosomal dominant 74 | AD | 3 | 620688 | HNRNPC | 164020 |
15q21.3 | Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | AD | 3 | 620330 | RFX7 | 612660 |
16p13.3 | Intellectual developmental disorder, autosomal dominant 72 | AD | 3 | 620439 | SRRM2 | 606032 |
16q22.1 | Intellectual developmental disorder, autosomal dominant 21 | AD | 3 | 615502 | CTCF | 604167 |
16q24.3 | Intellectual developmental disorder, autosomal dominant 3 | AD | 3 | 612580 | CDH15 | 114019 |
17p13.1 | Intellectual developmental disorder, autosomal dominant 62 | AD | 3 | 618793 | DLG4 | 602887 |
17q21.2 | Coffin-Siris syndrome 5 | AD | 3 | 616938 | SMARCE1 | 603111 |
17q21.31 | Koolen-De Vries syndrome | AD | 3 | 610443 | KANSL1 | 612452 |
17q23.1 | Intellectual developmental disorder, autosomal dominant 56 | AD | 3 | 617854 | CLTC | 118955 |
17q23.2 | Intellectual developmental disorder, autosomal dominant 61 | AD | 3 | 618009 | MED13 | 603808 |
17q23.2 | Intellectual developmental disorder, autosomal dominant 57 | AD | 3 | 618050 | TLK2 | 608439 |
18q12.3 | Intellectual developmental disorder, autosomal dominant 29 | AD | 3 | 616078 | SETBP1 | 611060 |
19p13.3 | Intellectual developmental disorder, autosomal dominant 65 | AD | 3 | 619320 | KDM4B | 609765 |
19p13.2 | Coffin-Siris syndrome 4 | AD | 3 | 614609 | SMARCA4 | 603254 |
19q13.12 | Intellectual developmental disorder, autosomal dominant 68 | AD | 3 | 619934 | KMT2B | 606834 |
19q13.2 | Intellectual developmental disorder, autosomal dominant 45 | AD | 3 | 617600 | CIC | 612082 |
20q11.23 | ?Intellectual developmental disorder, autosomal dominant 11 | AD | 3 | 614257 | EPB41L1 | 602879 |
20q13.33 | Intellectual developmental disorder, autosomal dominant 73 | AD | 3 | 620450 | TAF4 | 601796 |
20q13.33 | Intellectual developmental disorder, autosomal dominant 38 | AD | 3 | 616393 | EEF1A2 | 602959 |
21q22.13 | Intellectual developmental disorder, autosomal dominant 7 | AD | 3 | 614104 | DYRK1A | 600855 |
22q11.23 | Coffin-Siris syndrome 3 | AD | 3 | 614608 | SMARCB1 | 601607 |
22q12.3 | ?Intellectual developmental disorder, autosomal dominant 10 | AD | 3 | 614256 | CACNG2 | 602911 |
Phenotype Mapping Key |
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1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known. |
2 - The disorder was placed on the map by statistical methods. |
3 - The molecular basis of the disorder is known. |
4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved. |
Inheritance Abbreviations | |
---|---|
?AD | ?Autosomal dominant |
?XLR | ?X-linked recessive |
AD | Autosomal dominant |
AR | Autosomal recessive |
PD | Pseudoautosomal dominant |
PR | Pseudoautosomal recessive |
DD | Digenic dominant |
DR | Digenic recessive |
ICB | Inherited chromosomal imbalance |
IC | Isolated cases |
Mi | Mitochondrial |
Mu | Multifactorial |
SMo | Somatic mosaicism |
SMu | Somatic mutation |
XL | X-linked |
XLD | X-linked dominant |
XLR | X-linked recessive |
YL | Y-linked |