WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.320 GeneticVariation disease BEFREE Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review. 28551038 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.320 GeneticVariation disease BEFREE In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3). 27030146 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.320 GermlineCausalMutation disease ORPHANET In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3). 27030146 2016