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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
| 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 |
Related Glycoprotein
