Spinocerebellar Ataxia, Autosomal Recessive 21 (SCAR21)

Spinocerebellar Ataxia, Autosomal Recessive 21, also known as acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, is related to spinocerebellar ataxia 21 and cholestasis. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 21 is SCYL1 (SCY1 Like Pseudokinase 1). Affiliated tissues include liver and spinal cord, and related phenotypes are global developmental delay and intellectual disability, mild