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GENATLAS PHENOTYPE

last update : 18-10-2016

Symbol	SCAR19
Location	1p36.11
Name	spinocerebellar ataxia, autosomal recessive 19
Other name(s)	Lichtenstein-Knorr syndrome
Corresponding gene	SLC9A1
Other symbol(s)	LIKNS
Main clinical features	neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia, included marked dysarthria, dizziness, and broad-based unsteady gait brain MRI showed thickening of the gray matter in the cortex and basal ganglia, reduction in the supra- and infratentorial white matter
Genetic determination	autosomal recessive
Function/system disorder	ear
	neurology
Type	disease

Remark(s)