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