| Term Name: | congenital myopathy 25 |
|---|---|
| Synonyms: | |
| Definition: | A congenital myopathy characterized by prominent facial, ocular, and bulbar features that has_material_basis_in homozygous mutation in the JPH1 gene on chromosome 8q21. |
| Ontology: | Human Disease [DOID:0061256] ( DOID:0061256 ) |