Hypomyelinating leukodystrophy 12

Definition

Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.

Also known as HLD12, hypomyelinating leukodystrophy type 12, leukodystrophy caused by mutation in VPS11, leukodystrophy, hypomyelinating, 12, leukodystrophy, hypomyelinating, type 12, VPS11 leukodystrophy, VPS11-related autosomal recessive hypomyelinating leukoencephalopathy — per MONDO

Also identified as

• DOID 0060796 per MONDO
• OMIM 616683 per MONDO
• Orphanet 466934 per MONDO
• UMLS C4225247 per MONDO