Phenotype #0000233124

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307325
Associated disease	MPOD
Phenotype details	complete MPO deficiency, signs of obstructive pulmonary disease, although no history of recurrent infections or medication known to interfere with MPO activity present or used
Diagnosis/Initial	complete myeloperoxidase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MPOD
Age/Examination	39y (39 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-10 17:32:18 +02:00 (CEST)
Date last edited	N/A

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