DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 Biomarker disease BEFREE We report a patient with a mild case of SLOS, highlighting the importance of recognizing subtle anomalies of the genitourinary system, associated with mild dysmorphic features and mild intellectual disability in establishing the diagnosis of mild forms of SLOS. 26969503 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 23918729 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. 23293579 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Smith-Lemli-Opitz syndrome. 21777499 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. 18285838 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? 16906538 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 16761297 2006
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 15464432 2005
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 15286151 2004
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 11562938 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Mutations in the human DHCR7 gene. 11241839 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299 2000
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR The Smith-Lemli-Opitz syndrome. 10807690 2000
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 9024557 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation disease CLINVAR Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 8259166 1994