| Metadata | |
|---|---|
| ID | DOID:0060810 |
| Name | syndromic X-linked intellectual disability type 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. https://www.ncbi.nlm.nih.gov/pubmed/10521307, https://www.ncbi.nlm.nih.gov/pubmed/17236142 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HSD10 deficiency, atypical type [EXACT] HSD10 disease, atypical type [EXACT] mental retardation, X-linked syndromic 10 [EXACT] MRXS10 [EXACT] X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome [EXACT] |
| Parent Relationships |