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X-linked intellectual disability, Turner type

Disease definition

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

ORPHA:85328

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: -
  • ICD-10: Q87.8
  • OMIM: 300706  309590
  • UMLS: C2678046
  • MeSH: -
  • GARD: -
  • MedDRA: -
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