alpha thalassemia-intellectual disability syndrome type 1
MONDO:0007716Also known as: ATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 Syndrome, Alpha thalassemia-intellectual disability syndrome, Alpha thalassemia-intellectual disability syndrome, deletion type
Rare disease49 associated genes
Description
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.
Associated genes
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