has material basis in germline mutation in ASAH1 sphingolipidosis ASAH1-related sphingolipidosis https://github.com/monarch-initiative/mondo/issues/5881 https://github.com/monarch-initiative/mondo/issues/6882 https://github.com/monarch-initiative/mondo/issues/8921 ASAH1-related sphingolipidosis acid ceramidase deficiency 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. GARD:0026262 The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts. [https://clinicalgenome.org/affiliation/40060/, PMID:29595935] MONDO:0100524 ASAH1-related disorders human disease