muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MONDO:0018939
muscle-eye-brain disease
is_a
MONDO:0700071
myopathy caused by variation in POMT2
is_a
MDDGA2
exact
Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related
exact
muscle-eye-brain-POMT2 related
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
exact
SPAPB1E7.09 SPAC22A12.07c