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Summary Literature (0)
DOID:0080197 - congenital muscular dystrophy with cataracts and intellectual disability


Disease Ontology 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.

Synonyms:


In Mondo Disease Ontology:
MONDO:0024607 - congenital muscular dystrophy with cataracts and intellectual disability

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : inpp5k

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital muscular dystrophy (is_a)