Global Variome shared LOVD

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

Phenotype #0000339387 Individual ID 00450326 Associated disease HMGCLD Phenotype details Hypoglycemia, hyperammonemia Diagnosis/Initial 3-Hydroxy-3-methylglutaric aciduria Inheritance Familial, autosomal recessive Diagnosis/Definite HMG-CoA lyase deficiency Age/Examination 00y09m (9 months) Age/Diagnosis 00y10m Age/Onset - Phenotype/Onset - Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-05-25 01:17:53 +02:00 (CEST) Date last edited 2024-05-25 09:51:57 +02:00 (CEST)

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