Ataxia due to Marinesco-Sjögren syndrome (Q96484): Difference between revisions
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Ataxia no contexto da síndrome de Marinesco-Sjögren, que é uma doença autossômica recessiva associada a mutações no gene SIL1. A doença é caracterizada por miopatia, ataxia e catarata que aparecem na primeira infância. | |||
| description / en | description / en | ||
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. | |||
Revision as of 12:29, 16 August 2026
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 |
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| 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. |
