Phenotype #0000068325

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00088922
Associated disease	PXE
Phenotype details	skin plaques of coalesced papules; eye bleeding and/or scarring; no gastrointestinal symptoms; weak or absent pulses; no caridiac symptoms; nephrolithiasis (HP:0000787)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Anne Legrand
Database submission license	No license selected
Created by	Anne Legrand
Date created	2016-10-24 15:49:15 +02:00 (CEST)
Date last edited	N/A

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