Global Variome shared LOVD

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Phenotype #0000186838 Individual ID 00247659 Associated disease KNDLRS Phenotype details Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Constipation; Severe desquamative gingivitis ; Acrokeratosis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 24y Age/Onset - Phenotype/Onset - Protein - Owner name Leila Youssefian Database submission license No license selected Created by Leila Youssefian Date created 2015-01-28 04:00:59 +01:00 (CET) Date last edited 2020-08-03 15:57:18 +02:00 (CEST)

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