Term Name: | alpha thalassemia-intellectual disability syndrome type 1 |
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Synonyms: | alpha thalassemia-intellectual disability syndrome, deletion type, alpha thalassemia-retardation syndrome, alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, alpha-thalassemia/mental retardation syndrome, deletion-type, alpha-thalassemia/mental retardation syndrome, type 1, ATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 syndrome |
Definition: | An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. |
Ontology: | Human Disease [DOID:0110029] ( DOID:0110029 ) |