# Schuurs-Hoeijmakers Syndrome

> autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2

**Wikidata**: [Q50349621](https://www.wikidata.org/wiki/Q50349621)  
**Source**: https://4ort.xyz/entity/schuurs-hoeijmakers-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/f5fb6cba-cff6-4498-a725-3f863a910cf1--2020-06-26T18:27:16)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f5fb6cba-cff6-4498-a725-3f863a910cf1-2020-06-26T182716.855Z)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023