Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B6

Term ID
DOID:0110637
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models