| Term Name: | Kearns-Sayre syndrome |
|---|---|
| Synonyms: | KSS |
| Definition: | A chronic progressive external ophthalmoplegia characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and one or more of heart block, cerebellar ataxia, or a cerebrospinal fluid protein level above 100 mg/dl, that has_material_basis_in deletion of mitochondrial DNA. Onset is before 20 years of age. |
| Ontology: | Human Disease [DOID:12934] ( DOID:12934 ) |