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GENATLAS PHENOTYPE

last update : 20/04/2020

Symbol	PKDYS1
Location	5p15.33
Name	Parkinsonism-dystonia, infantile, 1
Corresponding gene	sLC6A3
Main clinical features	onset in infancy, hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor axial hypotonia, pyramidal tract signs, and eye movement abnormalities, cognitive function appears to be less severely affected, but most patients die in the teenage year
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)