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muscular dystrophy-dystroglycanopathy type C12

Summary

Synonym

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.

Super Class

autosomal recessive disease muscular dystrophy-dystroglycanopathy

External Links

Disease Ontology

DOID:0112381

Mondo Disease Ontology

MONDO:0014489

ORDO

445110

OMIM

616094

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
84197	POMK	protein O-mannose kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
74653	Pomk	protein-O-mannose kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
306549	Pomk	protein-O-mannose kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
492773	pomk	protein O-mannose kinase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
496338	pomk.L	protein-O-mannose kinase L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

The Human Phenotype Ontology

Displaying entries **1 - 10** of 12 in total

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HPO ID	HPO Term
HP:0003391	Gowers sign
HP:0001319	Neonatal hypotonia
HP:0006889	Intellectual disability, borderline
HP:0001265	Hyporeflexia
HP:0003560	Muscular dystrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0000007	Autosomal recessive inheritance
HP:0003551	Difficulty climbing stairs
HP:0002280	Enlarged cisterna magna
HP:0003593	Infantile onset