Rs41298442

Also known as Lys224Arg, G allele is associated with Dopa-Responsive Dystonia.

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.


 * is_associated_with_disease::Dystonia
 * is_associated_with_disease::Syndrome