| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (Human Disease Ontology, DOID_0050691) |
| External Link | http://www.omim.org/entry/113620 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| TFAP2A | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) |
