OBO ID: DOID:0110635
Term Name: muscular dystrophy-dystroglycanopathy type B5 Search Ontology:
Synonyms:
  • congenital muscular dystrophy 1C
  • FKRP-related congenital muscular dystrophy
  • MDC1C
  • MDDGB5
  • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
  • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (2)
References:
Ontology: Human Disease   (DOID:0110635)
OTHER muscular dystrophy-dystroglycanopathy type B5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FKRP Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 606612
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None