Phenotype #0000298162

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00405639
Associated disease	HMGCLD
Phenotype details	no neurological/cognitive disability
Diagnosis/Initial	HMG-CoA lyase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	HMGCLD
Age/Examination	1y7m (1 year, 7 months)
Age/Diagnosis	5d
Age/Onset	4d
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-20 11:49:41 +01:00 (CET)
Date last edited	N/A

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