MYCBP2-related developmental delay with corpus callosum defects

Definition

Any neurodevelopmental disorder in which the cause of the disease is a mutation in the MYCBP2 gene. This condition is characterized by variable corpus callosum defects consistent with dysgenesis, and a broad spectrum of neurobehavioural deficits including developmental delay, intellectual disability, epilepsy, and autistic features.

Also known as MDCD, MYCBP2-related developmental delay with corpus callosum defects — per MONDO