WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 GeneticVariation disease BEFREE Further, clinical symptoms associated with WDR45 mutations ranged from early-onset epileptic encephalopathy in a male patient with a deletion of WDR45 to only mild cognitive delay in a female patient, suggesting that analysis of this gene should be considered more often in patients with developmental delay, regardless of severity. 26790960 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 GeneticVariation disease BEFREE Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy. 27030146 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.030 GeneticVariation disease BEFREE Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016