Term Name:	congenital muscular dystrophy with cataracts and intellectual disability
Synonyms:
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.
Ontology:	Human Disease [DOID:0080197]   ( DOID:0080197 )