WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Brain atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.010 GeneticVariation disease BEFREE Mutations in WDR45 should be considered as a cause for epileptic encephalopathies in males with profound developmental delay and brain atrophy. 28711740 2017