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CDKL5 - cyclin dependent kinase like 5
- Synonym(s) : CFAP247, EIEE2
- Previous symbols and names : STK9, cyclin-dependent kinase-like 5, serine/threonine kinase 9
- Type : gene with protein product
- Chromosomal location : Xp22.13
- OMIM: 300203
- HGNC: 11411
- UniProtKB: O76039
- Genatlas: CDKL5
- Ensembl: ENSG00000008086
- IUPHAR-DB: 1986
- Reactome: O76039
- LOVD: CDKL5
Diseases list
- Disease-causing germline mutation(s) in Atypical Rett syndrome
ORPHA:3095 
- Disease-causing germline mutation(s) in CDKL5-related epileptic encephalopathy
ORPHA:505652 - Disease-causing germline mutation(s) in Early infantile epileptic encephalopathy
ORPHA:1934 - Disease-causing germline mutation(s) in West syndrome
ORPHA:3451
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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