CDKL5 disorder
MONDO:0100039Mondo
Findings
No curated finding names CDKL5 disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A monogenic disease that has material basis in mutation in the CDKL5 gene.
Definition from the Mondo Disease Ontology (MONDO:0100039), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDKL5HGNC:11411
- Definitive · ClinGen · X-linked · 2018
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: CDKL5 disorder
- Also called
- CDKL5 Deficiency DisorderCDKL5 inherited genetic diseaseinherited genetic disease caused by mutation in CDKL5