Agenesis of the Corpus Callosum (FRMD4A)

Agenesis of the corpus callosum is an autosomal recessive disorder caused by pathogenic variants in the gene FRMD4A. The onset of this condition occurs before birth and some of the features can occasionally be observed on prenatal ultrasound. The disorder is characterized by severe, congenital microcephaly, dysmorphic facial features, and severe intellectual disability with poor or absent speech. Complete or partial agenesis of the corpus callosum has been reported. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):