label: Neurodevelopmental Disorder with or without Variable Brain Abnormalities
label_lc: neurodevelopmental disorder with or without variable brain abnormalities
description: An autosomal dominant condition caused by mutation(s) in the MAPK8IP3 gene, encoding c-Jun-amino-terminal kinase-interacting protein 3. It is commonly characterized by global developmental delay, intellectual disability, and spastic diplegia. There may be associated brain abnormalities include cerebellar and/or cerebral atrophy, and hypoplasia of the corpus callosum.