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: C1527366
Disease: Salaam Seizures
Salaam Seizures
0.010 GeneticVariation disease BEFREE We conclude that WDR45 mutations should be considered as a possible aetiology in infants with early-onset focal seizures and/or in otherwise undiagnosed cases of epileptic spasms. 26609730 2015