OBO ID: DOID:0111237
Term Name: congenital muscular dystrophy-dystroglycanopathy type A1 Search Ontology:
Synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
  • MDDGA1
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. https://www.ncbi.nlm.nih.gov/pubmed/12369018
References:
Ontology: Human Disease   ( DOID:0111237 )
Relationships
is a type of:
OTHER congenital muscular dystrophy-dystroglycanopathy type A1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.