Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia (CCAFCA)

Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia, is also known as severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome. An important gene associated with Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia is FRMD4A (FERM Domain Containing 4A). Affiliated tissues include skin and brain, and related phenotypes are agenesis of corpus callosum and global developmental delay