Global Variome shared LOVD

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

Phenotype #0000298146 Individual ID 00405623 Associated disease HMGCLD Phenotype details hypoglycemia, metabolic acidosis, hyperammoniemia Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination 10y (10 years) Age/Diagnosis 1y 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 2022-03-19 20:55:34 +01:00 (CET) Date last edited N/A

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