limb-girdle muscular dystrophy due to POMK deficiency
Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
MONDO:0000173
muscular dystrophy-dystroglycanopathy, type C
is_a
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016155
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
is_a
LGMD due to POMK deficiency
exact
MDDGC12
related
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
related