alpha thalassemia-intellectual disability syndrome type 1 (DOID:0110029)
Alliance: disease page
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
Alt IDs: OMIM:141750, ICD10CM:D56.0, ORDO:98791
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.