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 )

Relationships
is a type of: autosomal recessive disease congenital muscular dystrophy