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Alpha-thalassemia-X-linked intellectual disability syndrome

Disease definition

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.

ORPHA:847

  • Synonym(s):
    • ATR-X syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D56.0
  • OMIM: 301040
  • UMLS: C1845055
  • MeSH: -
  • GARD: 5864
  • MedDRA: -

Detailed information

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