Global Variome shared LOVD

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

Phenotype #0000001303 Individual ID 00002324 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset 00y00m01d Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; postaxial polydactyly on all extremities, single transverse palmar crease (left), hypertonic extremities, limb shortness, incomplete 2-3 toe syndactyly, intersex genitalia, pyloric stenosis, biliary chrhosis and atrioventricular septal defect Biochem cholesterol: 0,8 mM, 7DHC: 215 mg/l Protein - Severity_score 55 Age/Diagnosis - Owner name István Balogh Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-12-11 10:26:18 +01:00 (CET) Date last edited 2013-03-08 14:52:45 +01:00 (CET)

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