Details of Disease | DrugMAP

General Information of Disease (ID: DIS4QU6X)

Disease Name	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Synonyms	Birk-Flusser syndrome; corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia; corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia; CCAFCA
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS4QU6X: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Disease Identifiers	MONDO ID MONDO_0014787 UMLS CUI C4225193 OMIM ID 616819 MedGen ID 902346 Orphanet ID 466688 SNOMED CT ID 1208727002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FRMD4A	OTJDTIK2	Strong	Autosomal recessive	[1]
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References

1	A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. Eur J Hum Genet. 2015 Dec;23(12):1729-34. doi: 10.1038/ejhg.2014.241. Epub 2014 Nov 12.