# acrocallosal syndrome

> syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation

**Wikidata**: [Q4675304](https://www.wikidata.org/wiki/Q4675304)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Acrocallosal_syndrome)  
**Source**: https://4ort.xyz/entity/acrocallosal-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
5. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166813/MONDO_0008708)
7. BabelNet
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)