alpha thalassemia-X-linked intellectual disability syndrome

Term ID

DOID:0110030

Synonyms

• alpha-thalassemia/mental retardation syndrome nondeletion type
• ATR, nondeletion type
• ATR-X syndrome

Definition

An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (2)

References

• GARD:5864
• ICD10CM:D56.0
• OMIM:301040
• ORDO:847

Ontology

Human Disease   ( DOID:0110030 )