Phenotype #0000333176

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00443913
Associated disease	WSN2
Phenotype details	see paper; ..., 11y-white spongy plaques on herbuccal mucosa, 18y-white spongy plaques vulva and vaginal mucosa; lesions show typical epidermolytic hyperkeratosis with large, spongy cells with intracellular oedema starting at prickle celllayer
Diagnosis/Initial	white sponge nevus
Inheritance	Isolated (sporadic)
Diagnosis/Definite	WSN2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-06 19:06:45 +01:00 (CET)
Date last edited	N/A

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