EPB41L3-related developmental disorder with delayed myelination and seizures

Definition

A neurodevelopmental disorder caused by variation in the EPB41L3 gene. This disorder is characterised by global developmental delay, mild to moderate intellectual disability, early-onset seizures, and delayed myelination. Additional brain MRI abnormalities include thin corpus callosum, mild cerebellar atrophy, hyperintensities in the posterior limb of internal capsule and pyramidal tract. Other phenotypic features commonly reported include dystonia, strabismus, spasticity, tremors, and autistic features.