Synaptojanin 1 deficiency

Synonym(s)
- Early infantile epileptic encephalopathy type 53,
- early-onset Parkinson disease type 2
Type

Disease
External link(s)
- IEMbase
Gene
- SYNJ1 / Synaptojanin 1
  21q22.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Synaptojanin-1
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism