AFG3L2-related optic atrophy and/or spastic ataxia spectrum
MONDO:0700372Any 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.
Also known as: AFG3L2-related optic atrophy and/or spastic ataxia spectrum
13 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn mitochondrial metabolism disorder
(58)
Inborn errors of metabolism
(45)
Mitochondrial disease
(40)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Mitochondrial DNA depletion syndrome
(3)
Mitochondrial oxidative phosphorylation disorder
(3)