GlyCosmos Portal

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 **31 - 40** of 68 in total

« First

‹ Prev

1

2

3

4

5

6

7

Next ›

Last »
HPO ID	HPO Term
HP:0001324	Muscle weakness
HP:0001328	Specific learning disability
HP:0001331	Absent septum pellucidum
HP:0001339	Lissencephaly
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature
HP:0002119	Ventriculomegaly
HP:0002126	Polymicrogyria
HP:0002269	Abnormality of neuronal migration
HP:0002334	Abnormal cerebellar vermis morphology
HP:0002536	Abnormal cortical gyration

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

« First

‹ Prev

1

2
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