CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Severe psychomotor retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		0.010 GeneticVariation phenotype BEFREE Early onset epilepsy with severe psychomotor retardation without a known etiology may be caused by a mutation in CDKL5. 31492455 2020