| Metadata | |
|---|---|
| ID | DOID:0060814 |
| Name | Wilson-Turner syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. https://www.ncbi.nlm.nih.gov/pubmed/1746601, https://www.ncbi.nlm.nih.gov/pubmed/25644381 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked, syndromic 6 [EXACT] mental retardation, X-linked, with gynecomastia and obesity [EXACT] MRXS6 [EXACT] WTS [EXACT] X-linked intellectual disability-gynecomastia-obesity syndrome [EXACT] |
| Parent Relationships |