Global Variome shared LOVD

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Phenotype #0000298019 Individual ID 00405496 Associated disease HMGCLD Phenotype details see paper; ..., 4m-respiratory tract infection, fevers, alternations in consciousness, hepatomegaly, metabolic acidosis, impaired liver function, hyperammonemia, hypoglycemia, generalized tonic and clonic convulsions Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination 13y (13 years) 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 2022-03-18 14:20:43 +01:00 (CET) Date last edited 2022-03-18 14:35:58 +01:00 (CET)

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