Global Variome shared LOVD

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Phenotype #0000186831 Individual ID 00247674 Associated disease KNDLRS Phenotype details trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; no intestine symptoms; no anal symptoms; no urogenital symptoms; ectropion; no epithelial skin cancer Diagnosis/Initial Kindler syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite KNDLRS Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license No license selected Created by Cristina Has Date created 2011-05-23 11:41:01 +02:00 (CEST) Date last edited 2021-01-09 16:21:16 +01:00 (CET)

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