Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000014963 Individual ID 00016364 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset <00y Age/Examination - Phenotype/Onset - Phenotype details cleft palate; hypotonia; ambiguous genitalia; short pahllus; perineal hypospadias; undescended testes; secundum atrial septal defect; feeding difficulties; bilateral ptosis; cleft palate; bilateral 2,3 toe syndactyly; 7-DHC 1006µmol/l; cholesterol 356µmol/l Biochem - Protein - Severity_score - Age/Diagnosis 00y 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 18:26:05 +01:00 (CET) Date last edited N/A

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