| 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 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |