non-syndromic X-linked intellectual disability 96

Summary
Synonym
  • MRX96
  • X-linked mental retardation 96
Definition
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23.
Super Class
X-linked recessive disease non-syndromic X-linked intellectual disability
Disease Ontology
DOID:0112035
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6855 SYP synaptophysin
Displaying 1 entry
Gene ID Gene Symbol Description Source
20977 Syp synaptophysin
Displaying 1 entry
Gene ID Gene Symbol Description Source
24804 Syp synaptophysin
Displaying 1 entry
Gene ID Gene Symbol Description Source
177608 sph-1 MARVEL domain-containing protein

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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