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GENATLAS PHENOTYPE

last update : 18-10-2016

Symbol	SCAR23
Location	6p22.3
Name	spinocerebellar ataxia, autosomal recessive 23
Corresponding gene	TDP2
Main clinical features	neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia; moderate to severe intellectual disability with IQ ranging between 30 and 40 dysmorphic features, including long face, hypotelorism, wide and downslanting palpebral fissures, deep-set eyes with prominent supraorbital ridges, short philtrum, small mouth with prominent lower lip, high palate, and large ears lower lip, high palate, and large ears
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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