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GENATLAS PHENOTYPE

last update : 14-03-2018

Symbol	HMNDYT2
Location	8p21.3
Name	hypermanganesemia with dystonia 2
Corresponding gene	SLC39A14
Main clinical features	neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation cognition may be impaired, but is better preserved than motor function
Genetic determination	autosomal recessive
Function/system disorder	metabolism/metal
Type	disease

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