Phenotype #0000298158

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00405635
Associated disease	HMGCLD
Phenotype details	see paper; ..., 1m-ypoglycemia (without ketonuria, metabolic acidosis, hepatomegaly); 5m-vomiting, lethargy, hepatomegaly, respiratory disorders needing ventilatory support
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y01m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-20 11:04:27 +01:00 (CET)
Date last edited	N/A

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