muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
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
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
SPAC22A12.07c SPAPB1E7.09