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 )

Relationships
is a type of: chronic progressive external ophthalmoplegia