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GENATLAS PHENOTYPE

last update : 11-04-2015

Symbol	NDGOA
Location	4p13
Name	Neurodegeneration with optic atrophy, childhood onset
Corresponding gene	UCHL1
Main clinical features	neurodegenerative disorder with onset in early childhood; normal early development, but progressive visual loss around age 5 years with optic atrophy, nystagmus, cerebellar ataxia, and spasticity of the lower limbs with hyperreflexia and extensor plantar responses moderate mental retardation
Genetic determination	autosomal recessive
Function/system disorder	eye
	mental retardation
	neurology
Type	disease

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