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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 |
|---|---|---|---|
| 17096 | Lyn | LYN proto-oncogene, Src family tyrosine kinase | |
| 20779 | Src | Rous sarcoma oncogene | |
| 22612 | Yes1 | YES proto-oncogene 1, Src family tyrosine kinase | |
| 22773 | Zic3 | zinc finger protein of the cerebellum 3 | |
| 319322 | Sf3b2 | splicing factor 3b, subunit 2 |
