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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 |
|---|---|---|---|
| 7991 | TUSC3 | tumor suppressor candidate 3 | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 9254 | CACNA2D2 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | |
| 9524 | TECR | trans-2,3-enoyl-CoA reductase | |
| 11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 51102 | MECR | mitochondrial trans-2-enoyl-CoA reductase | |
| 55768 | NGLY1 | N-glycanase 1 | |
| 57462 | MYORG | myogenesis regulating glycosidase (putative) | |
| 79143 | MBOAT7 | membrane bound O-acyltransferase domain containing 7 |
Related Glycoprotein
