OBO ID: DOID:0111231
Term Name: congenital muscular dystrophy-dystroglycanopathy type A8 Search Ontology:
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:
OTHER congenital muscular dystrophy-dystroglycanopathy type A8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMGNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 614830
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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