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
External Links
Disease Ontology
DOID:0110030
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
54578 UGT1A6 UDP glucuronosyltransferase family 1 member A6
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1

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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: August 19, 2024