Orphanet: PURA related severe neonatal hypotonia seizures encephalopathy syndrome
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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Disease definition

A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.

ORPHA:438213

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

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020) Japanese (2022, pdf)

Detailed information

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

Additional information

Further information on this disease

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