autosomal recessive limb-girdle muscular dystrophy type 2N
Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016185
qualitative or quantitative defects of protein O-mannosyltransferase 2
is_a
MONDO:0700071
myopathy caused by variation in POMT2
is_a
LGMD-POMT2 related
exact
LGMD2N
exact
MDDGC2
exact
POMT2 autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2
exact
limb-girdle muscular dystrophy type 2N
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
related
SPAC22A12.07c SPAPB1E7.09