|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|C12ORF57||chromosome 12 open reading frame 57|