OnlineIMD
Phosphatidylinositol 4-kinase type 3 alpha deficiency
Type
Disease
External link(s)
IEMbase
Gene
PI4KA
/ Phosphatidylinositol 4-Kinase Alpha
22q11.21
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphatidylinositol 4-kinase catalytic subunit alpha
Disease group(s)
14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
Autosomal recessive spastic paraplegia type 84
Perisylvian polymicrogyria with cerebellar hypoplasia and arthrogryposis
Gastrointestinal defects and immunodeficiency syndrome