Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12

Definition

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.

Also known as muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12, muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK, POMK muscular dystrophy-dystroglycanopathy, type A — per MONDO

Also identified as

• DOID 0111235 per MONDO
• OMIM 615249 per MONDO
• UMLS C3808964 per MONDO