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alpha thalassemia-intellectual disability syndrome type 1

MONDO:0007716

Also 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

MONDO:
MONDO:0007716
Orphanet:
98791
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

+39 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.