Human genes for congenital muscular dystrophy with cataracts and intellectual disability
Congenital muscular dystrophy with cataracts and intellectual disability [DOID:0080197]
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.
Synonyms: congenital muscular dystrophy with cataracts and intellectual disability, congenital muscular dystrophy with cataracts and intellectual disabilities, DOID:0080197