Global Variome shared LOVD

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

Phenotype #0000298175 Individual ID 00405652 Associated disease HMGCLD Phenotype details severe neurological/cognitive disability Diagnosis/Initial HMG-CoA lyase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite HMGCLD Age/Examination 19y5m (19 years, 5 months) Age/Diagnosis 1y6m Age/Onset 6m 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 2022-03-20 11:49:41 +01:00 (CET) Date last edited N/A

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