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Alpha thalassemia-intellectual disability syndrome type 1

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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.

Identifiers
MONDO:0007716 OMIM:141750Orphanet:98791
Part of
Hematologic disorderPartial deletion of the short arm of chromosome 16Syndromic disease
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

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