Phosphatidylinositol-3-phosphate 5-kinase deficiency

Synonym(s)
- Corneal fleck dystrophy
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PIKFYVE / PIKFYVE kinase
  2q34
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol-3-phosphate 5-kinase type-3
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism