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GENATLAS PHENOTYPE

last update : 20-11-2017

Symbol	PARK20
Location	21q22.11
Name	Parkinson disease 20, early-onset
Corresponding gene	SYNJ1
Main clinical features	neurodegenerative disorder characterized by young adult-onset of parkinsonism with seizures, cognitive decline, abnormal eye movements, and dystonia progressive movement disorder, with bradykinesia, gait impairment, involuntary movements, dysarthria, and postural instability; other features included rigidity, tremor, dystonia, staring gaze, supranuclear gaze palsy, and eyelid apraxia brain MRI showed diffuse cerebral cortical atrophy
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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