Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare inborn error of metabolism that is characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. Disease data Classification Disease ORPHA code 480 OMIM code 530000 ICD10 code H49.8 ICD11 code 9C82.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl