infantile cerebellar-retinal degeneration Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (Human Disease Ontology, DOID_0050883)
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1 genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
ACO2 aconitase 2, mitochondrial