Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

A 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.

Short toe

A toe that appears disproportionately short compared to the foot.


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PMID (PMCID)