non-syndromic X-linked intellectual disability ARX-related

Summary
Synonym
  • ARX-related intellectual disability
  • MRXARX
  • X-linked mental retardation 29
  • X-linked mental retardation 29 and others
  • X-linked mental retardation 32
  • X-linked mental retardation 33
  • X-linked mental retardation 38
  • X-linked mental retardation 43
  • X-linked mental retardation 52
  • X-linked mental retardation 54
  • X-linked mental retardation 76
  • X-linked mental retardation 87
  • X-linked mental retardation with or without seizures ARX-related
Definition
A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.
Super Class
X-linked recessive disease non-syndromic X-linked intellectual disability
Disease Ontology
DOID:0112021
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
170302 ARX aristaless related homeobox

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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