congenital merosin-deficient muscular dystrophy 1A (DOID:0110636)
Alliance: disease page
Synonyms: CMD1A; congenital muscular dystrophy due to laminin alpha2 deficiency; MDC1A; Merosin-negative congenital muscular dystrophy
Alt IDs: OMIM:607855, MESH:C537384, NCI:C118783, ORDO:258, UMLS_CUI:C1263858
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.