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Summary Literature (0)
DOID:0050883 - infantile cerebellar-retinal degeneration

Disease Ontology Definition: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.

Synonyms:

Xenbase Genes : aco2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013802 - infantile cerebellar-retinal degeneration


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), neurodegenerative disease (is_a)