OBO ID: DOID:0110637
Term Name: muscular dystrophy-dystroglycanopathy type B6 Search Ontology:
Synonyms:
  • congenital muscular dystrophy LARGE-related
  • congenital muscular dystrophy type 1D
  • MDC1D
  • MDDGB6
  • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
  • muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (2)
References:
Ontology: Human Disease   (DOID:0110637)
OTHER muscular dystrophy-dystroglycanopathy type B6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LARGE1 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 608840
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None