LSS, lanosterol synthase, 4047

N. diseases: 74; N. variants: 10
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Congenital cataract with LSS gene mutations: a new case report. 29016354 2017