Orphanet: Atkin Flaitz syndrome

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Atkin-Flaitz syndrome

Disease definition

A rare syndrome characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.


Classification level: Disorder
  • Synonym(s):
    • X-linked intellectual disability, Atkin type
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 300431
  • UMLS: C0796206
  • MeSH: -
  • GARD: 3537
  • MedDRA: -
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