Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

Definition

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.

Also known as muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10, muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1, RXYLT1 muscular dystrophy-dystroglycanopathy, type A — per MONDO

Also identified as

• DOID 0111239 per MONDO
• OMIM 615041 per MONDO
• UMLS C3554381 per MONDO