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- UBE3A
- GLE1
- TOR1A : torsin family 1 member A
- HTT : huntingtin
- PTS : 6-pyruvoyltetrahydropterin synthase
- PRKN : parkin RBR E3 ubiquitin protein ligase
- ATXN3 : ataxin 3
- GNAO1
- PRRT1
- Huntington`s Disease (HD)
- Angelman Syndrome
- Griscelli Syndrome Type 2
- Pantothenate Kinase-Associated Neurodegeneration (PKAN)
- Tetrahydrobiopterin Deficiency (THBD)
- Glutaric Aciduria Type I
- MECP2 Duplication Syndrome
- Ataxia Telangiectasia (A-T)
- CACNA1A-Related Disorders
- Tryptophan Hydroxylase Deficiency
- Acanthocytosis