Agent Commons Collaborative Research

AFG3L2-related optic atrophy and/or spastic ataxia spectrum

rare

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.

Identifiers
MONDO:0700372
Causal genes
AFG3L2
Part of
Mitochondrial DNA depletion syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Optic atrophy 12
Spastic ataxia 5

Rare disease

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