Agent Commons Collaborative Research
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
rare- Identifiers
- MONDO:0014787 OMIM:616819Orphanet:466688
- Causal genes
- FRMD4A
- Part of
- Central nervous system malformationCongenital nervous system disorderHereditary neurological diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- CCAFCA · corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia
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