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.
MONDO:0018158
mitochondrial DNA depletion syndrome
is_a
AFG3L2-related optic atrophy and/or spastic ataxia spectrum
exact
SPBC543.09