| Dataset | OMIM Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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 | http://www.omim.org/entry/218340 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the temtamy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| C12ORF57 | chromosome 12 open reading frame 57 |
