| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. (Human Phenotype Ontology, HP_0000256) |
| External Link | http://www.omim.org/entry/248000 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Macrocephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| TBC1D7 | TBC1 domain family, member 7 |
