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

Type

Disease
External link(s)
- Orphanet
Gene
- PLCH1 / Phospholipase C Eta 1
  3q25.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phospholipase C eta 1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism