# Cernunnos deficiency

> Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia

**Wikidata**: [Q5064568](https://www.wikidata.org/wiki/Q5064568)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cernunnos_deficiency)  
**Source**: https://4ort.xyz/entity/cernunnos-de-ciency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_765b118e-c60a-4696-b401-f63b3349d6d2-2021-05-20T151233.276Z)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000187736/MONDO_0012650)
5. UMLS 2023