PI4KA, phosphatidylinositol 4-kinase alpha, 5297

N. diseases: 31; N. variants: 9
Disease: Perisylvian syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845668
Disease: Perisylvian syndrome
Perisylvian syndrome 		0.300 GermlineCausalMutation disease ORPHANET Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. 25855803 2015