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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

ORPHA:438216

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G40.4
  • OMIM: 616158
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

This disease is described under PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

  A summary on this disease is available in Japanese (2019, pdf)

Detailed information

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Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

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