Term Name: | infantile cerebellar-retinal degeneration |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050883] ( DOID:0050883 ) |