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.
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epidermolysis bullosa simplex 5B, with muscular dystrophy
MONDO:0009181
autosomal recessive limb-girdle muscular dystrophy type 2A
MONDO:0009675
autosomal recessive limb-girdle muscular dystrophy type 2B
MONDO:0009676
autosomal recessive limb-girdle muscular dystrophy type 2C
MONDO:0009677
autosomal recessive limb-girdle muscular dystrophy type 2H
MONDO:0009683
autosomal recessive limb-girdle muscular dystrophy type 2F
MONDO:0011028