| Disease Aliases (42) | 7-dehydrocholesterol reductase deficiencies 7-dehydrocholesterol reductase deficiency Acrodysgenital syndrome, lethal Acrodysgenital syndromes, lethal Deficiencies, 7-dehydrocholesterol reductase Deficiency, 7-dehydrocholesterol reductase Hyperotosis corticalis generalisata familiaris Lethal acrodysgenital syndrome Lethal acrodysgenital syndromes Polydactyly, sex reversal, renal hypoplasia, and unilobar lung Polydactyly, sex reversal, renal hypoplasia, and unilobular lung Rsh slo syndrome Rsh syndrome Rsh syndromes Rsh-slo syndrome Rsh-slo syndromes Rutledge lethal multiple congenital anomaly syndrome Reductase deficiencies, 7-dehydrocholesterol Reductase deficiency, 7-dehydrocholesterol Rutledge friedman harrod syndrome Slo syndrome Slo syndromes Slo syndrome type 1 Slos Smith lemli opitz syndrome Smith lemli opitz syndrome, type 2 Smith lemli opitz syndrome, type i Smith lemli opitz syndrome, type ii Smith lemli opitz syndrome, type 1 Smith-lemli-opitz syndrome, type 1 Smith-lemli-opitz syndrome, type 2 Smith-lemli-opitz syndrome, type i Smith-lemli-opitz syndrome, type ii Smith-lemli-opitz syndrome type 1 Smith-lemli-opitz syndrome; slos Smith-opitz-inborn syndrome Syndrome, lethal acrodysgenital Syndrome, rsh Syndrome, slo Syndromes, rsh Syndromes, slo |
Associated Genes (1) NCBI-RefSeq: DHCR7 (7-dehydrocholesterol reductase) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Smith-Lemli-Opitz syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |