# Koolen de Vries syndrome

> Human disease

**Wikidata**: [Q4553565](https://www.wikidata.org/wiki/Q4553565)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Koolen–De_Vries_syndrome)  
**Source**: https://4ort.xyz/entity/koolen-de-vries-syndrome


## References

1. Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil
2. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
3. Disease Ontology
4. Monarch Disease Ontology release 2018-06-29
5. UniProt
6. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e89a0e87-314a-49b1-bb50-6b26aeaa1037-2022-02-18T120936.714Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000120071/MONDO_0012496)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)