| Term Name: | alpha thalassemia-X-linked intellectual disability syndrome |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0110030] ( DOID:0110030 ) |