Global Variome shared LOVD

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Phenotype #0000355932 Individual ID 00471098 Associated disease PPK Diagnosis/Initial palmoplantar keratoderma Diagnosis/Definite - Phenotype details see paper; ..., 1d no erythroderma, no neonatal teeth; 2y-keratoderma ingertips, severe diffuse keratoderma with coarse white–yellow scales, painful fissures soles; fingernails mild leuconychia, dystrophic cuticles.; toenails white/brown discoloration, dystrophic with transverse ridges; long curly scalp hair, normal hair growth Inheritance Familial, autosomal recessive Age/Examination 26y (26 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 11:06:10 +01:00 (CET) Date last edited N/A

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