Mondo Description Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.

Uniprot Description A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes.

Disease Ontology Description An autosomal recessive limb-girdle muscular dystrophy that hhas_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21.