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GENATLAS PHENOTYPE

last update : 30-06-2012

Symbol	JS
Location	Xq22.1
Name	opticoacoustic nerve atrophy with dementia
Other name(s)	Jensen syndrome
Corresponding gene	TIMM8A
Main clinical features	characterized by profound sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia generalized degenerative disease of the central nervous system
Genetic determination	sex linked
Function/system disorder	neurology
	psychiatric disorder
	eye
Type	disease

Gene product

Name	DDP protein (TIMM8A)

Remark(s)

X-linked recessive, allelic to MRXS8