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GENATLAS PHENOTYPE

last update : 06-03-2019

Symbol	DTPC2
Location	9q34
Name	primary cervical dystonia 2
Corresponding gene	CIZ1
Main clinical features	adult onset, primary cervical dystonia, typically during the fourth and fifth decades of life variable limitation of the neck, torticollis, and hypertrophy of the sternocleidomastoid muscles with head tremor, and in any cases limb tremor
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)

mutations in CIZ1 may cause adult onset, primary cervical dystonia, possibly by precipitating neurodevelopmental abnormalities that manifest in adults and/or G1/S cell-cycle dysregulation in the mature central nervous system, in rare cases (PMID: 22447717))