Mental Retardation, Autosomal Recessive 3 (CC2D1A)

Mental retardation, autosomal recessive 3 (MRT3) is a rare autosomal recessive disorder which is caused by pathogenic variants in the gene CC2D1A. Individuals with this disorder typically present with delayed psychomotor development in childhood. Individuals typically have little to no speech ability, severe intellectual disability, and limited verbal comprehension. Individuals with this disorder are not expected to have unusual physical features. Life expectancy is based on clinical severity.

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

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