Ataxia due to Marinesco-Sjögren syndrome (Q96484)
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Ataxia in the setting of Marinesco-Sjögren syndrome, which is an autosomal recessive disease associated with mutations in the SIL1 gene. The disease is characterized by myopathy, ataxia, and cataracts appearing in early childhood.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_185656997 |
||
| English | Ataxia due to Marinesco-Sjögren syndrome |
Ataxia in the setting of Marinesco-Sjögren syndrome, which is an autosomal recessive disease associated with mutations in the SIL1 gene. The disease is characterized by myopathy, ataxia, and cataracts appearing in early childhood. |
Statements
CID11:ID_185656997
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dki-india-ID_185656997
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Concluído
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15 August 2026
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