congenital muscular dystrophy with cataracts and intellectual disability (DOID:0080197)
Alliance: disease page
Alt IDs: OMIM:617404
Definition: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.