AFG3L2-related optic atrophy and/or spastic ataxia spectrum
MONDO:0700372Mondo
Findings
No curated finding names AFG3L2-related optic atrophy and/or spastic ataxia spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0700372), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AFG3L2HGNC:315
- Definitive · ClinGen · Semidominant · 2024
Where it sits
- A kind of
- Narrower terms (2)