BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
MONDO:1060230Mondo
Findings
No curated finding names BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:1060230), read 2026-09-29. CC BY 4.0.