| Metadata | |
|---|---|
| ID | DOID:0061201 |
| Name | Bethlem myopathy 2 |
| Definition | A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q. https://pubmed.ncbi.nlm.nih.gov/24334604/ |
| Xrefs | |
| SKOS |
exactMatch MIM:616471 |
| Synonyms |
myopathic-type Ehlers-Danlos syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Bethlem myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |