Global Variome shared LOVD

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Phenotype #0000186835 Individual ID 00247658 Associated disease KNDLRS Phenotype details trauma induced blisters; atrophy on the dorsal aspects of hands and feet, disseminated poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; oral bleeding; no esophageal symptoms; colitis/diarhoea; anal stenosis; urogenital stenosis; ectropion; no epithelial skin cancer Diagnosis/Initial Kindler syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite KNDLRS Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license No license selected Created by Cristina Has Date created 2011-05-31 16:56:48 +02:00 (CEST) Date last edited 2021-01-09 16:19:38 +01:00 (CET)

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