Spinocerebellar Ataxia, Autosomal Recessive 30 (SCAR30)

Spinocerebellar Ataxia, Autosomal Recessive 30, also known as scar30, is related to spinocerebellar ataxia, autosomal recessive 31. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 30 is PITRM1 (Pitrilysin Metallopeptidase 1). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are global developmental delay and intellectual disability, mild