| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. (Orphanet Rare Disease Ontology, Orphanet_1777) |
| External Link | https://www.disgenet.org/browser/0/1/0/C1857512 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the disease Temtamy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| C12ORF57 | chromosome 12 open reading frame 57 |
