Phenotype #0000078815

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00088545
Associated disease	PXE
Phenotype details	classical PXE phenotype, including characteristic skin lesions with increased skin folding, “peau de orange”, moderate to severe loss of visual acuity
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
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	2017-03-04 15:01:38 +01:00 (CET)
Date last edited	2017-03-04 15:09:30 +01:00 (CET)

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