Phenotype #0000297981

Individual ID 00405458
Associated disease HMGCLD
Phenotype details see paper; ..., generalized tonic-clonic seizures
Diagnosis/Initial HMG-CoA lyase deficiency
Inheritance Familial, autosomal recessive
Diagnosis/Definite HMGCLD
Age/Examination 00y08m (8 months)
Age/Diagnosis -
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 2022-03-18 09:58:19 +01:00 (CET)
Date last edited 2022-03-18 10:07:38 +01:00 (CET)

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