Orphanet: Severe neonatal hypotonia seizures encephalopathy syndrome due to 5q31.3 microdeletion

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Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


Classification level: Subtype of disorder
  • Synonym(s):
    • 5q31.3 microdeletion syndrome
    • Del(5)(q31.3)
    • Monosomy 5q31.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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