Phosphatidylinositol-4,5-bisphosphate phospholipase C epsilon 1 deficiency

Synonym(s)
- Nephrotic syndrome type 3
Type

Disease
External link(s)
- IEMbase
Gene
- PLCE1 / Phospholipase C Epsilon 1
  10q23.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phospholipase C epsilon 1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism