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Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Disease 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.

ORPHA:457223

Classification level: Disorder
  • Synonym(s):
    • Syndromic sensorineural deafness due to COXPD
    • Syndromic sensorineural hearing loss due to COXPD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E88.8
  • OMIM: 617872
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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