has material basis in germline mutation in INPP5K congenital muscular dystrophy congenital muscular dystrophy with cataracts and intellectual disability https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_muscular_dystrophy_with_cataracts_and_intellectual_disability https://www.malacards.org/card/muscular_dystrophy_congenital_with_cataracts_and_impaired_intellectual_development GARD:0025435 UMLS:C4479410 MONDO:0024607 MDCCAID OMIM:617404 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. DOID:0080197 MEDGEN:1382291 Orphanet:662184