Global Variome shared LOVD

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

Phenotype #0000001241 Individual ID 00002262 Associated disease SLOS Inheritance Unknown Diagnosis/Initial - Diagnosis/Definite - Age/Onset - Age/Examination - Phenotype/Onset - Phenotype details ascertainment clinical presentation; patients with various combination of psychomotor regression and multiple congenital abnormalities suggesting SLOS. Biochem cholesterol: 630 ug/ml, 7DHC: 412 ug/ml Protein - Severity_score 52 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 2012-06-06 13:22:01 +02:00 (CEST) Date last edited N/A

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