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Human Disease

congenital muscular dystrophy-dystroglycanopathy type A8

Term ID
DOID:0111231
Synonyms
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
  • MDDGA8
  • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. https://www.ncbi.nlm.nih.gov/pubmed/22958903
References
Ontology
Human Disease   ( DOID:0111231 )
Relationships
is a type of
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Genes Involved
Zebrafish Models