alpha thalassemia-intellectual disability syndrome type 1

Term ID

DOID:0110029

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. (2)

References

• ICD10CM:D56.0
• MIM:141750
• ORDO:98791

Ontology

Human Disease   ( DOID:0110029 )