Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. Disease data Klasyfikacja Disease Synonimy COQ4-related neonatal encephalomyopathy Encefalopatia noworodków związana z COQ4 Kod ORPHA 457185 Kod OMIM 616276 Kod ICD10 E88.8 Kod ICD11 - *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