Phosphatidylinositol-4,5-bisphosphate 3-kinase regulatory subunit deficiency

Synonym(s)
- Ataxia-oculomotor apraxia type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIK3R5 / phosphoinositide 3-kinase regulatory subunit 5
  17p13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoinositide 3-kinase regulatory subunit 5
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism