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Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.
ORPHA:1236
Classification level: Disorder
Prevalence: <1 / 1 000 000
Inheritance: No data available
Age of onset: Neonatal
ICD-10: Q87.8
UMLS: C5190778
GARD: 3482
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: produced/endorsed by FSMR(s)
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