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Christianson syndrome

Disease definition

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

ORPHA:85278

  • Synonym(s):
    • X-linked Angelman-like syndrome
    • X-linked intellectual disability, South African type
    • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 300243
  • UMLS: C1846130
  • MeSH: C537450
  • GARD: 10572
  • MedDRA: -

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