Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000186856 Individual ID 00247621 Associated disease KNDLRS Phenotype details Trauma induced blisters; Poikiloderma; Skin atrophy; Photosensitivity; Esophageal stricture; Severe desquamative gingivitis ; 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 23:07:51 +01:00 (CET) Date last edited 2015-01-28 20:50:26 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.