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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Cornelia de Lange syndrome
Summary
- Synonym
-
- Brachmann de Lange syndrome
- De Lange syndrome
- Definition
- A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
- Super Class
- monogenic disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9365 | KL | klotho | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 56994 | CHPT1 | choline phosphotransferase 1 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 79623 | GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
