| Metadata | |
|---|---|
| ID | 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://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, http://omim.org/entry/614559  | 
			    
                        
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                                             DO_FlyBase_slim DO_rare_slim  | 
                        
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| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |