ACO2-related optic atrophy with or without extraocular features
An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.
MONDO:0043878
hereditary optic atrophy
is_a
MONDO:0044970
mitochondrial disease
is_a
ACO2-related optic atrophy with or without extraocular features
exact
infantile cerebellar-retinal degeneration
related
optic atrophy 9
narrow
SPBP4H10.15 SPAC24C9.06c