CALFAN Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure.

**Synonyms:** - Cholestasis, Acute Liver Failure, and Neurodegeneration