Alpha‑thalassemia‑intellectual disability syndrome linked to chromosome 16


Engelsk navn: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Engelske synonym: ATR syndrome linked to chromosome 16,ATR syndrome, deletion type,ATR-16 syndrome,Alpha thalassemia-intellectual disability syndrome, deletion type


Definisjon

A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

Fra Orphanet

ORPHA: 98791
Klassifiseringsnivå: Disorder
ICD-10: D56.0

Mer informasjon


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