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Human Disease

infantile cerebellar-retinal degeneration

Term ID
DOID:0050883
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. (5)
References
Ontology
Human Disease   ( DOID:0050883 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations