Global Variome shared LOVD

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Phenotype #0000355933 Individual ID 00471099 Associated disease PPK Diagnosis/Initial palmoplantar keratoderma Diagnosis/Definite - Phenotype details see paper; ..., 3y-mild diffuse plantar keratoderma distal heels/distal hallux, painful fissures; nails dysplastic, thin/transverse ridges, white/opaque fingernails, dystrophic toenails; normal teeth, normal hair, normal sweating; 8y-mild scaly hyperkeratosis fingertips, palmar hyperlinearity, dystrophic cuticles with erythematous surrounding skin, mild keratotic plaques/keratosis pilaris skin extensor sides knees/elbows Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-16 11:21:12 +01:00 (CET) Date last edited N/A

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