Phenotype #0000298014

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00405491
Associated disease	HMGCLD
Phenotype details	seizures, hypoglycaemia, sepsis
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-18 14:03:54 +01:00 (CET)
Date last edited	2022-03-18 14:04:47 +01:00 (CET)

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