Global Variome shared LOVD

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

Phenotype #0000001058 Individual ID 00002079 Associated disease SLOS Inheritance Familial Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; intellectual disability, microcephalia, mild 2-3 toe syndactyly, no polydactyly, sleep-wake cycle disturbance Biochem - Protein - Severity_score mild Age/Diagnosis 04y 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 2011-10-21 11:25:34 +02:00 (CEST) Date last edited 2012-07-12 16:09:33 +02:00 (CEST)

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