Global Variome shared LOVD

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Phenotype #0000297960 Individual ID 00405429 Associated disease HMGCLD Phenotype details see paper; ..., vomiting, lethargy, convulsions, hypoglycemia, liver dysfunction, metabolic acidosis, hyperammonemi; 4y4m-normal development Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination 04y04m (4 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset 7m 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 20:45:33 +01:00 (CET) Date last edited 2022-03-17 20:53:43 +01:00 (CET)

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