congenital merosin-deficient muscular dystrophy 1A

Term ID

DOID:0110636

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

• MESH:C537384
• NCI:C118783
• OMIM:607855
• ORDO:258
• SNOMEDCT_US_2023_03_01:787037000
• UMLS_CUI:C1263858

Ontology

Human Disease   ( DOID:0110636 )