| Metadata | |
|---|---|
| ID | DOID:0112382 |
| Name | muscular dystrophy-dystroglycanopathy type C8 |
| Definition | A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/27066570/ |
| Xrefs | |
| Synonyms |
autosomal recessive limb-girdle muscular dystrophy 24 [EXACT] LGMDR24 [EXACT] MDDGC2 [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 [EXACT] muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related [EXACT] |
| Parent Relationships |