Phenotype #0000346134

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457675
Associated disease	LCHADD
Phenotype details	see paper; ..., lethargy; muscle pain; depression; cardiac episode with ventricular tachycardia; retinitis pigmentosa; mother pregnancy HELLP syndrome; sister died (9m)
Diagnosis/Initial	LCHAD deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LCHADD
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	lethargy
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-15 21:17:28 +01:00 (CET)
Date last edited	N/A

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