Spinocerebellar Ataxia, Autosomal Recessive 20 (SCAR20)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 20

Scar20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome

Ataxia, Spinocerebellar, Autosomal Recessive, Type 20

Autosomal Recessive Spinocerebellar Ataxia Type 20

Spinocerebellar Ataxia, Autosomal Recessive, 20

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 20, also known as autosomal recessive spinocerebellar ataxia 20, is related to spinocerebellar ataxia 20 and autosomal recessive cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 20 is SNX14 (Sorting Nexin 14), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and G-AlphaQ Signaling. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are coarse facial features and delayed speech and language development

Related ID：

MALACARDS：SPN325

OMIM：616354

MESH：D002524