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GENATLAS PHENOTYPE

last update : 06-12-2019

Symbol	GDHS
Location	7p22.1
Name	Gordon Holmes syndrome
Other name(s)	Cerebellar ataxia and hypogonadotropic hypogonadism
Corresponding gene	RNF216
Other symbol(s)	CAHH
Main clinical features	adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea neurologic phenotype is associated with hypogonadotropic hypogonadism defect in the production or release of gonadotropins by the pituitary gland brain imaging consistently showed white matter lesions also cases mimicking Huntington-like disorder with chorea as an essential clinical feature in RNF216-mediated neurodegeneration. (PMID: 25841028))
Genetic determination	autosomal recessive
Function/system disorder	neurology
	sex-genitalia
Type	disease

Remark(s)