Term Name: | congenital merosin-deficient muscular dystrophy 1A |
---|---|
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. |
Ontology: | Human Disease [DOID:0110636] ( DOID:0110636 ) |