Phenotype #0000235194

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00309875
Associated disease	PBD
Phenotype details	see paper; ...
Diagnosis/Initial	peroxisome biogenesis disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	PBD12A
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2020-09-04 16:47:27 +02:00 (CEST)
Date last edited	2020-09-04 16:49:44 +02:00 (CEST)

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