Global Variome shared LOVD

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Phenotype #0000244661 Individual ID 00326193 Associated disease KNDLRS Phenotype details no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; mild webbing/sclerodermiform fingers; periodontitis/microstoma; esophageal stenosis, requiring frequent dilatations or surgery; colitis/diarhoea; anal bleeding, fissures; no urogenital symptoms; ectropion; epithelial skin cancer Diagnosis/Initial Kindler syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite KNDLRS Age/Examination 70y (70 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-09 16:35:36 +01:00 (CET) Date last edited N/A

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