Spinocerebellar Ataxia 38 (SCA38)

Spinocerebellar Ataxia 38(来自ICD-11)
别称:
Spinocerebellar Ataxia Type 38
Sca38
Ataxia, Spinocerebellar, Type 38
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Spinocerebellar Ataxia 38, also known as spinocerebellar ataxia type 38, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia 34, and has symptoms including cerebellar ataxia and gait ataxia. An important gene associated with Spinocerebellar Ataxia 38 is ELOVL5 (ELOVL Fatty Acid Elongase 5), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria
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MALACARDS
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<1/1000000
13
166
9

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