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GENATLAS PHENOTYPE

last update : 27-06-2019

Symbol	BEHRS
Location	3q29
Name	Behr syndrome
Corresponding gene	OPA1
Main clinical features	early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation, ophthalmoparesis, nystagmus, optic atrophy beginning in early childhood, associated with ataxia, spasticity, and mental retardation; after a period of progression, the symptoms remained static
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
	eye
Type	disease

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