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congenital muscular dystrophy-dystroglycanopathy type A12

Synonym

MDDGA12
Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

Disease Ontology

DOID:0111235

Mondo Disease Ontology

OMIM

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)

Displaying entries **51 - 60** of 68 in total

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HPO ID	HPO Term
HP:0000505	Visual impairment
HP:0000007	Autosomal recessive inheritance
HP:0000589	Coloboma
HP:0000407	Sensorineural hearing impairment
HP:0001371	Flexion contracture
HP:0003577	Congenital onset
HP:0011968	Feeding difficulties
HP:0002650	Scoliosis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0007663	Reduced visual acuity

Displaying entries **11 - 13** of 13 in total

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Gene ID	Gene Symbol	Description
84197	POMK	protein O-mannose kinase
84892	POMGNT2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
9215	LARGE1	LARGE xylosyl- and glucuronyltransferase 1