Phosphatidylinositol-4-phosphate 5-kinase deficiency

Synonym(s)
- Lethal congenital contractural syndrome type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIP5K1C / Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
  19p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism