Spinocerebellar Ataxia 12 (SCA12)

Spinocerebellar Ataxia 12(来自ICD-11)
别称:
Spinocerebellar Ataxia Type 12
Sca12
Ataxia, Spinocerebellar, Type 12
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Spinocerebellar Ataxia 12, also known as spinocerebellar ataxia type 12, is related to spinocerebellar ataxia 36 and spinocerebellar ataxia 8, and has symptoms including dysdiadochokinesis and head tremor. An important gene associated with Spinocerebellar Ataxia 12 is PPP2R2B (Protein Phosphatase 2 Regulatory Subunit Bbeta), and among its related pathways/superpathways are Prion disease pathway and CAMKK2 pathway. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are hyperreflexia and ataxia
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MALACARDS
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<1/1000000
13
176
7

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