Phosphatidylinositol 3-kinase regulatory subunit 1 deficiency

Synonym(s)
- SHORT syndrome, immunodeficiency type 36
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIK3R1 / Phosphoinositide 3-Kinase Regulatory Subunit 1
  5q13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol 3-kinase regulatory subunit alpha
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism