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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Sengers syndrome
MONDO:0008922
mitochondrial DNA depletion syndrome 1
MONDO:0011283
mitochondrial DNA depletion syndrome, myopathic form
MONDO:0012301
mitochondrial DNA depletion syndrome 4b
MONDO:0013350
spastic ataxia 5
MONDO:0013776
mitochondrial DNA depletion syndrome 11
MONDO:0014039