# Lamb-Shaffer syndrome

> human disease

**Wikidata**: [Q55784997](https://www.wikidata.org/wiki/Q55784997)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Lamb–Shaffer_syndrome)  
**Source**: https://4ort.xyz/entity/lamb-shaffer-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_781f21f2-d01a-457c-913e-8687a7c2650d-2022-01-27T170000.000Z)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000134532/MONDO_0017782)