syndromic X-linked intellectual disability type 10 (Q28065614)
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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.
- X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
- HSD10 deficiency, atypical type
- HSD10 disease, atypical type
- MRXS10
- mental retardation, X-linked syndromic 10
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | syndromic X-linked intellectual disability type 10 |
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. |
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Wikipedia(1 entry)
- dewiki Atypischer HSD10-Mangel