disease has basis in dysfunction of disease caused by disruption of disease has basis in disruption of DHCR7 7-dehydrocholesterol reductase activity congenital nervous system disorder Smith-Lemli-Opitz syndrome 7-dehydrocholesterol reductase deficiency DOID:14692 GARD:0005683 ICD10:E78.72 ICD10:Q87.1 ICD9:759.89 MESH:D019082 MONDO:0010035 NCIT:C85071 OMIM:270400 Orphanet:818 RSH syndrome Rutledge lethal multiple congenital anomaly syndrome SCTID:43929004 SLO syndrome SLOS Smith Lemli Opitz syndrome Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. Smith-Opitz-inborn syndrome UMLS:C0175694 https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome lethal acrodysgenital syndrome polydactyly, sex reversal, renal hypoplasia, and unilobar lung polydactyly, sex reversal, renal hypoplasia, and unilobular lung multiple congenital anomalies/dysmorphic syndrome-intellectual disability syndromic developmental defect of the eye malformation syndrome with short stature syndromic urogenital tract malformation syndromic dyslipidemia syndromic neurometabolic disease with non-X-linked intellectual disability syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 46,XY disorder of sex development due to a cholesterol synthesis defect dysostosis with limb and face anomalies as a major feature syndromic renal or urinary tract malformation syndromic epicanthus rare disorder with ptosis systemic disease with cataract metabolic disease with cataract genetic multiple congenital anomalies/dysmorphic syndrome disease of catalytic activity cholesterol biosynthetic process disease