Global Variome shared LOVD

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Phenotype #0000297964 Individual ID 00405433 Associated disease HMGCLD Phenotype details see paper; ..., hypothermia, convulsions, hypoglycemia, metabolic acidosis, liver dysfunction; 4y9m-bilateral occipital porencephaly Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination 04y09m (4 years, 9 months) Age/Diagnosis - Age/Onset - Phenotype/Onset 2d 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 21:15:59 +01:00 (CET)

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