Gene Information
cyclin dependent kinase like 5 [Source:HGNC Symbol;Acc:HGNC:11411]
CDKL5 variants are associated with 3 diseases including atypical Rett syndrome and developmental and epileptic encephalopathy, 2 and 1 others, with 32 documented clinical phenotypes.
The CDKL5 gene is associated with 3 medical conditions, including:
Research has identified 32 phenotypic features associated with CDKL5 variants:
Thick lower lip vermilion
HP:0000179
Anteverted nares
HP:0000463
Global developmental delay
HP:0001263
Hypsarrhythmia
HP:0002521
Progressive microcephaly
HP:0000253
Infantile onset
HP:0003593
Generalized hypotonia
HP:0001290
Multifocal seizures
HP:0031165
Inability to walk
HP:0002540
Motor stereotypy
HP:0000733
Infantile spasms
HP:0012469
Hypotonia
HP:0001252
Developmental regression
HP:0002376
Reduced eye contact
HP:0000817
Seizure
HP:0001250
ClinVar contains 10 variants associated with CDKL5. Below are some notable variants:
NM_000330.4(RS1):c.326+1101C>T
Uncertain significanceVCV004527983
Review: criteria provided, single submitter
NM_000330.4(RS1):c.493TAC[1] (p.Tyr166del)
Likely pathogenicVCV004526911
Review: criteria provided, single submitter
NM_001323289.2(CDKL5):c.668T>C (p.Ile223Thr)
Uncertain significanceVCV004293591
Review: criteria provided, single submitter
NM_001323289.2(CDKL5):c.1011_1012dup (p.His338fs)
Likely pathogenicVCV004292599
Review: criteria provided, single submitter
NM_000330.4(RS1):c.218C>T (p.Ser73Leu)
Likely pathogenicVCV004292179
Review: criteria provided, single submitter
There are 430 publications about CDKL5 indexed in PubMed. Below are some recent papers:
RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.
Drongitis D, Verrillo L, de Bellis A
PMID: 41244709
•
2025
•
Front Mol Biosci
Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder.
Jacoby P, Marsh ED, Demarest S
PMID: 41235743
•
2025 Nov
•
Brain Behav
Targeting the gut to improve seizure control in CDKL5 deficiency disorder (CDD): study protocol for a single-arm, open-label clinical trial.
Triva F, Borghi E, Marsiglia MD
PMID: 41230376
•
2025
•
Front Neurol
Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
Sunnetci-Akkoyunlu D, Kara B, Ozer T
PMID: 41153369
•
2025 Sep 28
•
Genes (Basel)
Comments on: "Development and Validation of the Communication and Interaction Disorder-Observation Report (CID-OR) in CDKL5 Deficiency Disorder".
Saqlain M, Reza M, Mujadid E
PMID: 41137778
•
2025 Oct 25
•
J Child Neurol
Get instant, comprehensive insights on CDKL5 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025