Thirty-eight patients who diagnosed with neurogenetic disease had other neurologic or systemic manifestation, except three patients with variants in KCNA1, KMT2B, and TOR1A genes (Figure 4); The patient with the KCNA1 mutation had episodic ataxia alone, and those with the KMT2B or TOR1A mutations showed dystonia only. The gene discussed is TOR1A; the disease is hereditary neurological disease.