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Standards Ontologies Notations
congenital muscular dystrophy-dystroglycanopathy type A12

Summary
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
74653 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496338 pomk.L protein-O-mannose kinase L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 21 - 30 of 68 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001274 Agenesis of corpus callosum
HP:0001284 Areflexia
HP:0001302 Pachygyria
HP:0001305 Dandy-Walker malformation
HP:0001321 Cerebellar hypoplasia
Displaying entries 11 - 13 of 13 in total
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
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024