Orphanet: Stiff baby syndrome

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Hereditary hyperekplexia

Disease definition

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


Classification level: Disorder
  • Synonym(s):
    • Congenital stiff man syndrome
    • Familial startle disease
    • Hereditary hyperexplexia
    • Kok disease
    • Stiff baby syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G25.8
  • OMIM: 149400  614618  614619  618011
  • UMLS: C1835614
  • MeSH: -
  • GARD: 3129
  • MedDRA: -

Detailed information


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