LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: AMR Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551986
Disease: AMR Syndrome
AMR Syndrome 		0.010 GeneticVariation disease BEFREE We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. 30723320 2019