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

rare

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

Identifiers
MONDO:0014101 OMIM:615249
Causal genes
POMK
Part of
Muscular dystrophy-dystroglycanopathy, type A
Also known as
MDDGA12 · muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK · POMK muscular dystrophy-dystroglycanopathy, type A

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