RS143319805 OPA1

Health Risk Chr 3:193643378

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What This Variant Does

"CLNSIG=5

Associated Conditions

Autosomal dominant optic atrophy classic form

Abortive cerebellar ataxia

Optic nerve hypoplasia

Optic atrophy with or without deafness

ophthalmoplegia

myopathy

ataxia

and neuropathy

Inborn genetic diseases

OPA1-related disorder

Optic atrophy

Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Autosomal dominant optic atrophy classic form

Abortive cerebellar ataxia

Optic nerve hypoplasia

Other Variants in OPA1