# Goldberg-Shprintzen syndrome

> syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1

**Wikidata**: [Q3508639](https://www.wikidata.org/wiki/Q3508639)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Goldberg–Shprintzen_syndrome)  
**Source**: https://4ort.xyz/entity/goldberg-shprintzen-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)