# Xia-Gibbs Syndrome

> autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3

**Wikidata**: [Q25111656](https://www.wikidata.org/wiki/Q25111656)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Xia–Gibbs_syndrome)  
**Source**: https://4ort.xyz/entity/xia-gibbs-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59a6c010-95ac-4813-9cf4-5ff60fa5c7e9-2021-11-16T170000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)