Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts. Disease data Classification Disease Synonyms Syndromic sensorineural deafness due to COXPD Syndromiczna czuciowo-nerwowa głuchota spowodowana COXPD Syndromiczna czuciowo-nerwowa utrata słuchu spowodowana COXPD Syndromic sensorineural hearing loss due to COXPD ORPHA code 457223 OMIM code 617872 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