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- Segawa Syndrome (Dopa-Responsive Dystonia)
- ATP1B1
- CACNA1A-Related Disorders
- Comprehensive List of Genetic and Rare Diseases
- TUBB4A : tubulin beta 4A class IVa
- TIMM8A : translocase of inner mitochondrial membrane 8A
- SERPINI1 : serpin family I member 1
- NBEA
- DYTN
- DCTN5
- CACNA1B
- ATP1B4
- NGLY1 : N-glycanase 1
- ATP1A4
- ATP1A2 : ATPase Na+/K+ transporting subunit alpha 2
- ASIC4
- TMEM222
- ISCA1
- PANK2 : pantothenate kinase 2
- GCH1 : GTP cyclohydrolase 1