OBO ID: DOID:0112382
Term Name: muscular dystrophy-dystroglycanopathy type C8 Search Ontology:
Synonyms:
  • autosomal recessive limb-girdle muscular dystrophy 24
  • LGMDR24
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
  • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Definition: A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/27066570/
References:
Ontology: Human Disease   (DOID:0112382)
OTHER muscular dystrophy-dystroglycanopathy type C8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMGNT2 Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None