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Up to: Mitochondrial DNA depletion syndrome
AFG3L2-related optic atrophy and/or spastic ataxia spectrum
Any disorder caused by a heterozygous variant or biallelic variants in the AFG3L2 gene and characterized by a spectrum of phenotypes including optic atrophy and/or spastic ataxia.
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Optic atrophy 12 0 trials
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Spastic ataxia 5 0 trials