Dopamine Transporter Deficiency Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the SLC6A3 gene, encoding sodium-dependent dopamine transporter. It is characterized by Parkinsonian features and has an onset in early infancy.

**Synonyms:** - PKDYS - Parkinsonism-Dystonia, Infantile