Phenotype #0000186855

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00247566
Associated disease	KNDLRS
Phenotype details	Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture;
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	32y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Leila Youssefian
Database submission license	No license selected
Created by	Leila Youssefian
Date created	2015-01-27 22:50:43 +01:00 (CET)
Date last edited	2015-01-28 20:49:23 +01:00 (CET)

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