OBO ID: DOID:0111233
Term Name: congenital muscular dystrophy-dystroglycanopathy A14 Search Ontology:
Synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
  • MDDGA14
  • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/23768512
References:
Ontology: Human Disease   ( DOID:0111233 )
Relationships
is a type of:
OTHER congenital muscular dystrophy-dystroglycanopathy A14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GMPPB Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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