Search Ontology:
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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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.