congenital muscular dystrophy-dystroglycanopathy type A9

Summary
Synonym
  • MDDGA9
  • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
External Links
Disease Ontology
DOID:0111232
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1605 DAG1 dystroglycan 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
36773 Dg Dystroglycan
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14118 Dystroglycan 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 69 in total
HPO ID HPO Term
HP:0002126 Polymicrogyria
HP:0010864 Intellectual disability, severe
HP:0001320 Cerebellar vermis hypoplasia
HP:0002421 Poor head control
HP:0000556 Retinal dystrophy
HP:0007361 Abnormal pons morphology
HP:0002079 Hypoplasia of the corpus callosum
HP:0011197 EEG with focal spike waves
HP:0002363 Abnormal brainstem morphology
HP:0000518 Cataract
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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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024