| Genes (# of families) | Mutations | Zygosity | Novel/Reported |
|---|---|---|---|
| GCH1 (n=3) | c.284C>T p.Pro95Leu c.631_632delAT p.Met211ValfsTer38 c.646C>T p.Arg216Ter | het het het | Novel Reported Reported |
| PTS (n=2) | c.84-3C>G | hom | Reported |
| TOR1A (n=1) | c.907_909delGAG p.Glu303del | het | Reported |
| SLC2A1 (n=1) | c.972G>A p.Ser324Ser | het | Reported |
| DDC (n=1) | c.1040G>A p.Arg347Gln | hom | Reported |
| KMT2B (n=1) | c.6863delC p.Pro2289ArgfsTer36 | het | Novel |
| TH (n=1) | c.698G>A p.Arg233His | hom | Reported |
| ATP13A2 (n=1) | c.1551_1556delCCTCAC p.Leu518_Thr519del | hom | Novel |
| ATP1A3 (n=1) | c.1838C>T p.Thr613Met | het | Reported |
| KIF1C (n=1) | c.2005C>T p.Arg669Ter | hom | Novel |
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