label: ASAH1-related sphingolipidosis
label_lc: asah1-related sphingolipidosis
description: A spectrum of disorders caused by variation(s) in the ASAH1 genel this spectrum includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The ASAH1 gene encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.