BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
MONDO:1060230
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.