OBO ID: DOID:0110636
Term Name: congenital merosin-deficient muscular dystrophy 1A Search Ontology:
Synonyms:
  • 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)
References:
Ontology: Human Disease   (DOID:0110636)
OTHER congenital merosin-deficient muscular dystrophy 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient 607855
PHENOTYPE No data available

CITATIONS (5)