# Schinzel–Giedion syndrome

> Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies

**Wikidata**: [Q7431481](https://www.wikidata.org/wiki/Q7431481)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Schinzel–Giedion_syndrome)  
**Source**: https://4ort.xyz/entity/schinzel-giedion-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_71885c03-b578-4baf-a17c-4817349eaf36-2021-02-16T170000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000152217/MONDO_0010010)