Global Variome shared LOVD

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Phenotype #0000014961 Individual ID 00016362 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details intrauterine growth retardation; 2,3 toe syndactyly; small atrial septal defect; micrognathia; anteverted nares; bilateral ptosis; low set ears; 7-DHC (376µmol/l); 8-DHC (310µmol/l); cholesterol (903µmol/l); Biochem - Protein - Severity_score - Age/Diagnosis 10.5 months Owner name Division of Human Genetics, Innsbruck Database submission license No license selected Created by Division of Human Genetics, Innsbruck Date created 2014-03-24 16:33:21 +01:00 (CET) Date last edited N/A

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