# Temtamy syndrome

> 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

**Wikidata**: [Q54366503](https://www.wikidata.org/wiki/Q54366503)  
**Source**: https://4ort.xyz/entity/temtamy-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111678/MONDO_0009033)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)