# 2q23.1 microdeletion syndrome

> The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

**Wikidata**: [Q56013827](https://www.wikidata.org/wiki/Q56013827)  
**Source**: https://4ort.xyz/entity/2q23-1-microdeletion-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000204406/MONDO_0016459)
3. UMLS 2023