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MIRAGE
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
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 |
