Global Variome shared LOVD

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

Phenotype #0000245780 Individual ID 00327495 Associated disease - Phenotype details Hepatomegaly HP:0002240 Hepatic steatosis HP:0001397 Hypertriglyceridemia HP:0002155 Hypercholesterolemia HP:0003124 Elevated serum alanine aminotransferase HP:0031964 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CESD Age/Examination - Age/Diagnosis 06y Age/Onset - Phenotype/Onset - Protein - Owner name Sarah Snanoudj Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Sarah Snanoudj Date created 2021-01-22 11:30:39 +01:00 (CET) Date last edited 2021-01-22 18:26:41 +01:00 (CET)

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