Global Variome shared LOVD

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Phenotype #0000297916 Individual ID 00405385 Associated disease HMGCLD Phenotype details see paper; ..., 2d-vomiting, convulsions, hypotonia, slight hepatomegaly, hypoglycaemia corrrected by intravenous glucoe administration Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-03-17 18:00:28 +01:00 (CET) Date last edited 2022-03-17 18:10:10 +01:00 (CET)

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