# Kleefstra syndrome

> Human disease

**Wikidata**: [Q4646476](https://www.wikidata.org/wiki/Q4646476)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Kleefstra_syndrome)  
**Source**: https://4ort.xyz/entity/kleefstra-syndrome


## References

1. Kleefstra Syndrome
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. UniProt
6. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/db91a861-6a88-4848-b6d5-4772bdef52ff--2018-06-07T18:31:28)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db91a861-6a88-4848-b6d5-4772bdef52ff-2018-06-07T183128.103Z)
9. Identifiers.org