Alpha thalassemia-intellectual disability syndrome type 1
Alpha thalassemia-intellectual disability syndrome type 1
Definition
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), 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.
Also known as Alpha thalassemia-intellectual disability syndrome, Alpha thalassemia-intellectual disability syndrome, deletion type, Alpha thalassemia-mental retardation syndrome, alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16, alpha-thalassemia/intellectual disability syndrome, deletion-type, alpha-thalassemia/intellectual disability syndrome, type 1, alpha-thalassemia/mental retardation syndrome, deletion-type, ATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 Syndrome — per MONDO