BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy

Definition

Any complex neurodevelopmental disorder in which the cause of the disease is a variationn in the BLOC1S1 gene. The disorder is characterized by intellectual disability, global developmental delay, leukodystrophy, optic atrophy, seizures, abnormal or delayed myelination, and spasticity; some individuals also present with mild features of hypopigmentation and ocular albinism.

Also known as BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy — per MONDO