Phenotype #0000298148

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curators: Sara Mole and Global Variome, with Curator vacancy

Individual ID	00405625
Associated disease	HMGCLD
Phenotype details	hypoglycemia
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	3y6m (3 years, 6 months)
Age/Diagnosis	11m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-19 21:01:23 +01:00 (CET)
Date last edited	N/A

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