Ataxia due to Marinesco-Sjögren syndrome (Q96484): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Canary Token | |||
dki-india-ID_185656997 | |||
| Property / Canary Token: dki-india-ID_185656997 / rank | |||
Normal rank | |||
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 |
||
| 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
0 references
dki-india-ID_185656997
0 references
