muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MDDGA12
related
POMK muscular dystrophy-dystroglycanopathy, type A
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
exact
muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK
exact