# Christianson syndrome

> rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures

**Wikidata**: [Q28065629](https://www.wikidata.org/wiki/Q28065629)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Christianson_syndrome)  
**Source**: https://4ort.xyz/entity/christianson-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1d97fc8d-e744-449a-939c-386895c121cd--2018-05-02T13:04:16)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1d97fc8d-e744-449a-939c-386895c121cd-2018-05-02T130416.790Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198689/MONDO_0010278)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)