muscular dystrophy-dystroglycanopathy type C8

Summary

DOID:0112382 - muscular dystrophy-dystroglycanopathy type C8

Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1.

Synonyms: autosomal recessive limb-girdle muscular dystrophy 24, LGMDR24, MDDGC2, muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related, muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pomgnt2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), muscular dystrophy-dystroglycanopathy (is_a)