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Atkin-Flaitz syndrome

Orpha number ORPHA1193
Synonym(s) X-linked intellectual disability, Atkin type
Prevalence <1 / 1 000 000
Inheritance
  • X-linked dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C0796206
MeSH -
MedDRA -
SNOMED CT -

Summary

Atkin-Flaitz syndrome is 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.


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