OBO ID: DOID:0112379
Term Name: muscular dystrophy-dystroglycanopathy type B4 Search Ontology:
Synonyms:
  • congenital muscular dystrophy FKTN-related
  • MDDGB4
Definition: A muscular dystrophy-dystroglycanopathy type B characteried by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in FKTN on chromosome 9q31.2. https://pubmed.ncbi.nlm.nih.gov/17878207/
References:
Ontology: Human Disease   (DOID:0112379)
OTHER muscular dystrophy-dystroglycanopathy type B4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FKTN Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 613152
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None