syndromic X-linked intellectual disability type 10

Summary
Synonym
  • HSD10 deficiency, atypical type
  • HSD10 disease, atypical type
  • MRXS10
  • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
  • mental retardation, X-linked syndromic 10
Definition
A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
Super Class
syndromic X-linked intellectual disability
External Links
Disease Ontology
DOID:0060810
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 24 in total
Gene ID Gene Symbol Description Source
36 ACADSB acyl-CoA dehydrogenase short/branched chain
39 ACAT2 acetyl-CoA acetyltransferase 2
410 ARSA arylsulfatase A
1717 DHCR7 7-dehydrocholesterol reductase
2760 GM2A ganglioside GM2 activator
3340 NDST1 N-deacetylase and N-sulfotransferase 1
5279 PIGC phosphatidylinositol glycan anchor biosynthesis class C
5621 PRNP prion protein (Kanno blood group)
5660 PSAP prosaposin
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024