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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Coffin-Lowry syndrome
Summary
- Definition
- A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22.
- Super Class
- X-linked dominant disease syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14756 | 17-beta-hydroxysteroid dehydrogenase type 6 | |
| P08559 | Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial | |
| Q9NZN1 | Interleukin-1 receptor accessory protein-like 1 |
