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Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Disease definition

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

ORPHA:254898

Classification level: Disorder
  • Synonym(s):
    • Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 614651
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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