Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha deficiency

Synonym(s)
- Oculoskeletodental syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIK3C2A / Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha
  11p15.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol 3-kinase catalytic subunit type 2-alpha
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism