Global Variome shared LOVD

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

Phenotype #0000001194 Individual ID 00002215 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; bilateral ptosis and small optic nerves, low-set ears, puffy eyelids, anteverted nares, idiopathic systemic hypertension, microgastria, small kidneys, and ambiguous genitalia Biochem cholesterol: 830 ug/ml, 7DHC: 150 ug/ml Protein - Severity_score 31 Age/Diagnosis 00y00m01d 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 16:00:32 +02:00 (CEST) Date last edited 2012-10-01 13:54:10 +02:00 (CEST)

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