Corpus callosum agenesis with facial anomalies and cerebellar ataxia

Definition:

Corpus callosum agenesis with facial anomalies and cerebellar ataxia (CCAFCA) is a novel autosomal recessive microcephaly intellectual disability syndrome with agenesis of corpus callosum and partial hypoplasia of the vermis and cerebellum. This disease is associated with mutations in FRMD4A, that is involved in cell structure, transport and signaling.

References:

[1]. Dina Fine, et al. 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. [Content Brief]

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