| Metadata | |
|---|---|
| ID | DOID:0110635 |
| Name | muscular dystrophy-dystroglycanopathy type B5 |
| Definition | A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. https://www.ncbi.nlm.nih.gov/pubmed/11592034, https://www.ncbi.nlm.nih.gov/pubmed/14652796 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital muscular dystrophy 1C [EXACT] FKRP-related congenital muscular dystrophy [EXACT] MDC1C [EXACT] MDDGB5 [EXACT] muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 [EXACT] muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 [EXACT] |
| Parent Relationships |