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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Wilson-Turner syndrome
Summary
- Synonym
-
- MRXS6
- WTS
- X-linked intellectual disability-gynecomastia-obesity syndrome
- mental retardation, X-linked, syndromic 6
- mental retardation, X-linked, with gynecomastia and obesity
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060814
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22303 | Acetylcholinesterase |
