WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Muscle Spasticity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.010 GeneticVariation phenotype BEFREE In contrast, WDR45 mutations lead to a distinct form of NBIA characterized by spasticity and intellectual disability in childhood followed by the subacute onset of dystonia-parkinsonism in adulthood. 24142851 2013