AFG3L2-related optic atrophy and/or spastic ataxia spectrum

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.

Also known as AFG3L2-related optic atrophy and/or spastic ataxia spectrum — per MONDO