Classic dopamine transporter deficiency syndrome
Classic dopamine transporter deficiency syndrome
Definition
Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.
Also known as classic DTDS, Parkinsonism-dystonia, infantile, 1, PKDYS1 — per MONDO