CDKL5 - Gene browser

CDKL5

cyclin dependent kinase like 5

HCNC Approved Symbol: CDKL5 (HGNC:11411)
Genomic Coordinates: 23:18,425,608 - 18,653,629 (Xp22.13)
Synonyms: EIEE2, CFAP247, STK9
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

29Patients

In total, 29 patients were diagnosed with a variant in the CDKL5 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

029
Patient count

Epilepsy: 10 (34.5%)
Patient Count: 10 (34.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (34.5%)
Seizures: 8 (27.6%)
Patient Count: 8 (27.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (27.6%)
Developmental delay: 7 (24.1%)
Patient Count: 7 (24.1%)
% of total patients presenting each phenotype is shown in parentheses.
7 (24.1%)
Epileptic encephalopathy: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)
Global development delay: 4 (13.8%)
Patient Count: 4 (13.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (13.8%)