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Echinobase
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:

Echinobase Genes : aco2


OMIM:
MIM:614559 - infantile cerebellar-retinal degeneration; icrd

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

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