| Metadata | |
|---|---|
| ID | DOID:0110636 |
| Name | congenital merosin-deficient muscular dystrophy 1A |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/24611677, https://www.ncbi.nlm.nih.gov/pubmed/7550355 |
| Xrefs |
SNOMEDCT_US_2023_03_01:787037000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CMD1A [EXACT] congenital muscular dystrophy due to laminin alpha2 deficiency [EXACT] MDC1A [EXACT] Merosin-negative congenital muscular dystrophy [EXACT] |
| Parent Relationships |