OBO ID: DOID:0110636
Term Name: congenital merosin-deficient muscular dystrophy 1A Search Ontology:
  • congenital muscular dystrophy due to laminin alpha2 deficiency
  • MDC1A
  • Merosin-negative congenital muscular dystrophy
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (2)
Ontology: Human Disease   (DOID:0110636)
OTHER congenital merosin-deficient muscular dystrophy 1A PAGES
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient 607855
PHENOTYPE No data available