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Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Disease definition

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ORPHA:98791

  • Synonym(s):
    • ATR syndrome linked to chromosome 16
    • ATR syndrome, deletion type
    • ATR-16 syndrome
    • Alpha thalassemia-intellectual disability syndrome, deletion type
    • Alpha thalassemia-mental retardation syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D56.0
  • OMIM: 141750
  • UMLS: C0475813  C0795917
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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