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Goldenhar syndrome
Summary
- Synonym
-
- Facio-auriculo-vertebral spectrum
- First AND second branchial arch syndrome
- First arch syndrome
- HEMIFACIAL MICROSOMIA
- OAV (oculoauriculovertebral) dysplasia
- Otomandibular dysostosis
- Definition
- A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
- Super Class
- syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 2998 | GYS2 | glycogen synthase 2 | |
| 4047 | LSS | lanosterol synthase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5067 | CNTN3 | contactin 3 | |
| 9382 | COG1 | component of oligomeric golgi complex 1 |
Related Glycoprotein
