Term Name:	classic dopamine transporter deficiency syndrome
Synonyms:	classic DTDS, infantile parkinsonism-dystonia 1, PKDYS1
Definition:	A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
Ontology:	Human Disease [DOID:0070489]   ( DOID:0070489 )