ASAH1-related sphingolipidosis

Definition

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.

Also known as ASAH1-related disorders, ASAH1-related sphingolipidosis — per MONDO