alpha thalassemia-X-linked intellectual disability syndrome

Summary
Synonym
  • ATR, nondeletion type
  • ATR-X syndrome
  • alpha-thalassemia/mental retardation syndrome nondeletion type
Definition
An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
Super Class
X-linked dominant disease alpha thalassemia
Disease Ontology
DOID:0110030
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
546 ATRX ATRX chromatin remodeler
Displaying 1 entry
Gene ID Gene Symbol Description Source
22589 Atrx ATRX, chromatin remodeler

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024