PhenomeGene — Human Disease Gene Website SeriesVPS16

Clinical Characteristics

•    Dystonia
•    Generalized dystonia
•    Isolated dystonia
•    Prominent upper body dystonia
•    Dysarthria
•    Dysphonia
•    Impaired gait or loss of ambulation (minority of cases)
•    Writing difficulties (writer`s cramp)
•    Speech impairment
•    Signal changes of the basal ganglia or normal neuroimaging
•    Mild-to-moderate intellectual deficits
•    Psychiatric disorders (mood disorders, OCD, aggression, impulsivity)
•    Slowly progressive
•    Phenotypic variability
•    Incomplete penetrance