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Alpha-thalassemia-X-linked intellectual disability syndrome

What is Alpha-thalassemia-X-linked intellectual disability syndrome?

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

Other condition names

  • ATR-X syndrome

Inheritance type

X-linked recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.