| Metadata | |
|---|---|
| ID | DOID:0110637 |
| Name | muscular dystrophy-dystroglycanopathy type B6 |
| Definition | A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/12966029, https://www.ncbi.nlm.nih.gov/pubmed/19067344 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital muscular dystrophy LARGE-related [EXACT] congenital muscular dystrophy type 1D [EXACT] MDC1D [EXACT] MDDGB6 [EXACT] muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6 [EXACT] muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 [EXACT] |
| Parent Relationships |