label: ASAH1-related sphingolipidosis
label_lc: asah1-related sphingolipidosis
description: "A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide."