Phenotype #0000298149

Individual ID 00405626
Associated disease HMGCLD
Phenotype details hypoglycemia, metabolic acidosis, hyperammoniemia; 1m-deceased
Diagnosis/Initial HMG-CoA lyase deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite HMGCLD
Age/Examination 00y01m (1 month)
Age/Diagnosis 00y00m04d
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-03-19 21:03:34 +01:00 (CET)
Date last edited 2022-03-19 21:04:55 +01:00 (CET)

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