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X-linked intellectual disability-seizures-psoriasis syndrome

Disease definition

A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.

ORPHA:3052

Classification level: Disorder
  • Synonym(s):
    • Tranebjaerg-Svejgaard syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 309480
  • UMLS: C2931381
  • MeSH: -
  • GARD: 5238
  • MedDRA: -
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