non-syndromic X-linked intellectual disability 50

Summary
Synonym
  • MRX50
  • X-linked intellectual developmental disorder 50
  • X-linked mental retardation 50
  • XLID50
Definition
A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21.
Super Class
non-syndromic X-linked intellectual disability
Disease Ontology
DOID:0112029
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6853 SYN1 synapsin I
Displaying 1 entry
Gene ID Gene Symbol Description Source
20964 Syn1 synapsin I
Displaying 1 entry
Gene ID Gene Symbol Description Source
24949 Syn1 synapsin I
Displaying 1 entry
Gene ID Gene Symbol Description Source
41247 Syn Synapsin

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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