Global Variome shared LOVD

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Phenotype #0000001197 Individual ID 00002218 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; hypotonic, asymmetric face; apparently low-set ears, polypoid, yellow cystic lesions on the ventral aspect of the tongue; micrognathia; relatively short limbs; short thumbs; postaxial polydactyly of all limbs, ambiguous genitalia Biochem cholesterol: 83 ug/ml, 7DHC: 86 ug/ml Protein - Severity_score 55 Age/Diagnosis - Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-06-04 16:24:47 +02:00 (CEST) Date last edited 2012-10-01 13:42:26 +02:00 (CEST)

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