Global Variome shared LOVD

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Phenotype #0000297962 Individual ID 00405431 Associated disease HMGCLD Phenotype details see paper; ..., coma, convulsion, hypoglycemia, metabolic acidosis, hyperammonemia; 3y8m-normal development Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination 3y8m (3 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset 1y3m 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 N/A

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