infantile cerebellar-retinal degeneration

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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:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: aco2

MIM:

MIM:614559 - infantile cerebellar-retinal degeneration; icrd

MIM:614559 - infantile cerebellar-retinal degeneration; icrd

Other Model Organisms: Alliance, 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)