CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy. 30624022 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. 29510241 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE All patients with CDKL5 mutation presented severe psychomotor developmental delay and refractory seizures. 27779742 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. 27315173 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. 27187038 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT)-like features. 22921766 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. 23583054 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. 22872100 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 Biomarker disease BEFREE In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features. 22779007 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay. 21770923 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE We have identified mosaic exonic deletions of CDKL5 in one male and two females with developmental delay and medically intractable seizures. 21293276 2011
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 GeneticVariation disease BEFREE Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms. 17993579 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.200 Biomarker disease HPO