AFG3L2-related optic atrophy and/or spastic ataxia spectrum

MONDO:0700372

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.

Also known as: AFG3L2-related optic atrophy and/or spastic ataxia spectrum

13 clinical trials for this condition and its sub-types, 0 tagged with AFG3L2-related optic atrophy and/or spastic ataxia spectrum itself.

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Part of

↑ Mitochondrial DNA depletion syndrome (11)

Sub-types of AFG3L2-related optic atrophy and/or spastic ataxia spectrum

Optic atrophy 12 0 trials
Spastic ataxia 5 0 trials

Including sub-types (13) Tagged with AFG3L2-related optic atrophy and/or spastic ataxia spectrum (0)

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