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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Dubowitz syndrome
Summary
- Synonym
-
- Dubowitz's syndrome
- Definition
- A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:14796
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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
