Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.
Comprehensive, easy-to-understand information about this condition
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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