Parkinsonism-Dystonia 1, Infantile-Onset (PKDYS1)

Parkinsonism-Dystonia 1, Infantile-Onset, also known as parkinsonism-dystonia, infantile, is related to atypical dopamine transporter deficiency syndrome and slc6a3-related dopamine transporter deficiency syndrome, and has symptoms including constipation, muscle rigidity and tremor. An important gene associated with Parkinsonism-Dystonia 1, Infantile-Onset is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include eye and tongue, and related phenotypes are global developmental delay and hypertonia