Global Variome shared LOVD

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Phenotype #0000297974 Individual ID 00405451 Associated disease HMGCLD Phenotype details see paper; ..., 48h-metabolic acidosis, hypoglycemia Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination - Age/Diagnosis - Age/Onset 00y00m02d 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 2022-03-18 09:36:36 +01:00 (CET) Date last edited 2022-03-18 09:41:55 +01:00 (CET)

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