- TypeGroup
- Disease group(s)
- Child entries
- TBC1D24 deficiency
- Seipin deficiency
- KIF1A deficiency
- Spermine synthase deficiency
- DNAJC12 deficiency
- KIF5A deficiency
- Synaptojanin 1 deficiency
- KIF5C deficiency
- Triose phosphate isomerase deficiency
- DYNC1H1 deficiency
- Dynamin 1 deficiency
- Dynamin 2 deficiency
- NAPB deficiency
- PRRT2 deficiency
- Rabenosyn 5 deficiency
- SNAP25 deficiency
- CEDNIK syndrome
- Syntaxin-binding protein 1 deficiency
- GOSR2-CDG
- Synaptic vesicle glycoprotein 2A deficiency
- Synaptobrevin 1 deficiency
- Synaptobrevin 2 deficiency
- Syntaxin 1A deficiency
- Syntaxin 1B deficiency
- Synapsin 1 deficiency
- IL1RAPL1 deficiency
- Paroxysmal nonkinesigenic dyskinesia type 1
- Synaptotagmin 1 deficiency
- Synaptotagmin 2 deficiency
- Synaptotagmin 14 deficiency
- Torsin 1A deficiency
- LRRK2 deficiency
- DNAJC6 deficiency
- Clathrin heavy chain deficiency
- SORCS receptor 3 deficiency
- DLG4 deficiency