muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MONDO:0018939
muscle-eye-brain disease
is_a
MONDO:0700070
myopathy caused by variation in POMT1
is_a
MDDGA1
related
muscle-eye-brain-POMT1 related
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
related
SPBC16C6.09