Orphanet: Neonatal encephalomyopathy cardiomyopathy respiratory distress syndrome
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Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Disease definition

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.

ORPHA:457185

Classification level: Disorder
  • Synonym(s):
    • COQ4-related neonatal encephalomyopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Infancy, Neonatal
  • ICD-10: G40.4
  • OMIM: 616276
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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