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Summary Literature (0)
DOID:0112381 - muscular dystrophy-dystroglycanopathy type C12

Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.

Synonyms: LGMD due to POMK deficiency, Limb-girdle muscular dystrophy due to POMK deficiency, MDDGC12, muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related

Xenbase Genes : pomk



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)