non-syndromic X-linked intellectual disability 9

Summary
Synonym
  • MRX44
  • MRX9
  • X-linked mental retardation 44
  • X-linked mental retardation 9
Definition
A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23.
Super Class
X-linked recessive disease non-syndromic X-linked intellectual disability
Disease Ontology
DOID:0112034
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
24140 FTSJ1 FtsJ RNA 2'-O-methyltransferase 1

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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