Global Variome shared LOVD

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Phenotype #0000186812 Individual ID 00247653 Associated disease KNDLRS Phenotype details no trauma induced blisters; atrophy on the dorsal aspects of hands and feet, localized poikiloderma; photo sensitivity; no webbing/pseudoainhum hands/feet; oral bleeding; esophageal stenosis, requiring frequent dilatations or surgery; no intestine symptoms; no anal symptoms; no urogenital symptoms; no ocular symptoms; no epithelial skin cancer Diagnosis/Initial Kindler syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite KNDLRS Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license No license selected Created by Cristina Has Date created 2011-05-30 13:51:06 +02:00 (CEST) Date last edited 2021-01-09 16:16:58 +01:00 (CET)

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