Phosphatidylinositol 3-kinase regulatory subunit 2 superactivity

Synonym(s)
- PIK3R2-related megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2
  19p13.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoinositide 3-kinase regulatory subunit beta
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism