Visualize Submit Comment

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://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
Xrefs	GARD:13264 MIM:614559
Subsets	DO_FlyBase_slim DO_rare_slim
Parent Relationships	is_a neurodegenerative disease is_a autosomal recessive disease