Inositol polyphosphate 5-phosphatase E deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- INPP5E / Inositol Polyphosphate-5-Phosphatase E
  9q34.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphatidylinositol 4,5-bisphosphate 5-phosphatase
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
- MORM syndrome
- Joubert syndrome type 1