Orphanet: Hypotonia with lactic acidemia and hyperammonemia

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Hypotonia with lactic acidemia and hyperammonemia

Disease definition

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.


Classification level: Disorder
  • Synonym(s):
    • COXPD5
    • Combined oxidative phosphorylation defect type 5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: E88.8
  • OMIM: 611719
  • UMLS: C2673642
  • MeSH: -
  • GARD: -
  • MedDRA: -
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