Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Disease data Classification Disease Synonyms COXPD16 COXPD16 Złożony defekt fosforylacji oksydacyjnej typu 16 Combined oxidative phosphorylation defect type 16 ORPHA code 352563 OMIM code 615395 ICD10 code E88.8 ICD11 code - *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