PAK3, p21 (RAC1) activated kinase 3, 5063

N. diseases: 134; N. variants: 7
Disease: Self-Injurious Behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.010 GeneticVariation phenotype BEFREE This is the first case of PAK3-related intellectual disability presenting with severe self-injury with improvement following treatment. 29246092 2018