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Metadata
ID	DOID:0080197
Name	congenital muscular dystrophy with cataracts and intellectual disability
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. https://www.ncbi.nlm.nih.gov/pubmed/28190459
Xrefs	OMIM:617404
Parent Relationships	is_a autosomal recessive disease is_a congenital muscular dystrophy