Phenotype #0000078739

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100526
Associated disease	PXE
Phenotype details	skin papules/bumps (HP:0200034); bleeding and/or scarring eye; no gastrointestinal signs; no vascular symptoms; chest pain/angina/abnormal EKG or abnormal stress test with no symptoms
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-03-04 14:49:28 +01:00 (CET)
Date last edited	N/A

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