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DOID DOID:0050883
Name infantile cerebellar-retinal degeneration
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.
http://omim.org/entry/614559, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, http://www.uniprot.org/diseases/DI-03409, https://www.ncbi.nlm.nih.gov/pubmed/22405087, https://www.ncbi.nlm.nih.gov/pubmed/23438437
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GARD:13264

OMIM:614559

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is_a neurodegenerative disease

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