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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 |
|---|---|---|---|
| 79868 | ALG13 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | |
| 80055 | PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | |
| 81562 | LMAN2L | lectin, mannose binding 2 like | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
Related Glycoprotein
