Global Variome shared LOVD

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Phenotype #0000355928 Individual ID 00471095 Associated disease PPK Diagnosis/Initial palmoplantar keratoderma Diagnosis/Definite - Phenotype details see paper; ..., 2y-palmoplantar keratoderma palms/soles; bilateral hearing loss; hyperkeratosis heels/lateral face both soles/weight-bearing areas, hands lesions mainly located in fingertips; no hair anomalies, no tooth abnormalities Inheritance Familial, autosomal recessive Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Lucía Miranda-Alcaraz Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-16 10:32:05 +01:00 (CET) Date last edited N/A

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