Phenotype #0000346135

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457676
Associated disease	LCHADD
Phenotype details	see paper; ..., hypoglycemia; exercise-induced muscle pain; multiple hospitalizations (hypoglycemia); retinitis pigmentosa; pregnancy unremarkable
Diagnosis/Initial	LCHAD deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LCHADD
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	00y06m
Phenotype/Onset	hypoglycemia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-15 21:20:56 +01:00 (CET)
Date last edited	N/A

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