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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

MIM:617404

Parent Relationships

is_a autosomal recessive disease

is_a congenital muscular dystrophy

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