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

A syndrome characterized by a variable phenotype including distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay or intellectual disability, and alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (3)

References

• GARD:5864
• ICD10CM:D56.0
• MESH:C538258
• MIM:301040
• NCI:C118631
• ORDO:847
• SNOMEDCT_US_2026_03_01:715342005
• UMLS_CUI:C1845055

Ontology

Human Disease   ( DOID:0110030 )