OnlineIMD

PRRT2 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • PRRT2 / Proline Rich Transmembrane Protein 2
      • 16p11.2
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Proline-rich transmembrane protein 2
  • Disease group(s)
    • 23.6    Disorders of the synaptic vesicle cycle