PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0086543|cataracts |
| Sentences | 1 |
| PubMedID- 22494833 | In humans, several mutations in sil1 gene disrupting the protein cause the marinesco-sjögren syndrome (mss), an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy [23]. |
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