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GENATLAS PHENOTYPE

last update : 08-06-2022

Symbol	LHONAR
Location	7q11.23
Name	Leber hereditary optic neuropathy, autosomal recessive
Corresponding gene	DNAJC30
Main clinical features	bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity; the visual field defect is typically in the central visual field incomplete penetrance and male predominance in any cases, childhood- or adult-onset Leigh syndrome associated
Genetic determination	autosomal recessive
Function/system disorder	eye
Type	disease

Remark(s)