| Term Name: | Bethlem myopathy 1B |
|---|---|
| Synonyms: | |
| Definition: | A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A2 gene on chromosome 21q22. |
| Ontology: | Human Disease [DOID:0061199] ( DOID:0061199 ) |