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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: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.