Condition: PARKINSONISM-DYSTONIA, INFANTILE, 1


rs267607068 in SLC6A3 gene and PARKINSONISM-DYSTONIA, INFANTILE, 1 PMID 19478460 2009 Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.