OBO ID: DOID:0111235
Term Name: congenital muscular dystrophy-dystroglycanopathy type A12 Search Ontology:
Synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
  • MDDGA12
  • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. https://www.ncbi.nlm.nih.gov/pubmed/23519211
References:
Ontology: Human Disease   ( DOID:0111235 )
Relationships
is a type of:
OTHER congenital muscular dystrophy-dystroglycanopathy type A12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMK Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
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.