| Metadata | |
|---|---|
| ID | DOID:0110030 |
| Name | alpha thalassemia-X-linked intellectual disability syndrome |
| Definition | An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. https://www.ncbi.nlm.nih.gov/pubmed/1415255, https://www.ncbi.nlm.nih.gov/pubmed/7697714 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-thalassemia/mental retardation syndrome nondeletion type [EXACT] ATR, nondeletion type [EXACT] ATR-X syndrome [EXACT] |
| Parent Relationships |
is_a alpha thalassemia |