Search Ontology:
Human Disease

congenital muscular dystrophy-dystroglycanopathy type A12

Term ID
DOID:0111235
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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