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Neonatal glycine encephalopathy

Disease definition

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

ORPHA:289857

Classification level: Subtype of disorder
  • Synonym(s):
    • Classic glycine encephalopathy
    • Neonatal NKH
    • Neonatal non-ketotic hyperglycinemia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.5
  • OMIM: 605899
  • UMLS: C0751748
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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