Term Name:	muscular dystrophy-dystroglycanopathy type C12
Synonyms:	LGMD due to POMK deficiency, Limb-girdle muscular dystrophy due to POMK deficiency, MDDGC12, muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
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.
Ontology:	Human Disease [DOID:0112381]   ( DOID:0112381 )