Phenotype #0000346171

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457713
Associated disease	?
Diagnosis/Initial	myopathy
Diagnosis/Definite	LCHADD
Phenotype details	see paper; ..., recurrent rhabdomyolyses, myoglobinuria
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	17y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-16 12:42:20 +01:00 (CET)
Date last edited	N/A

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