Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. Disease data Classification Disease Synonyms Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation Kardiomiopatia przerostowa i choroba kanalików nerkowych z powodu mutacji mtDNA Kardiomiopatia przerostowa z wadami nerek wskutek mutacji w mitochondrialnym DNA Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation ORPHA code 324525 OMIM code - 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