muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MONDO:0018939
muscle-eye-brain disease
is_a
MONDO:0700068
myopathy caused by variation in POMGNT1
is_a
MDDGA3
related
muscle-eye-brain-POMGNT1 related
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
related