Global Variome shared LOVD

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Phenotype #0000286396 Individual ID 00393156 Associated disease PC Diagnosis/Initial pachyonychia congenita Diagnosis/Definite PC3 Phenotype details pachyonychia congenita since birth; all fingernails thickened, all toenails thickened; focal plantar keratoderma over pressure points with blistering of feet during summer months or following prolonged walking; oral leukokeratosis affecting sides tongue and buccal mucosa; follicular keratosis on extensor aspect elbows, knees and lower legs; normal hair, normal teeth Inheritance Familial, autosomal dominant Age/Examination 15y (15 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 2021-11-26 14:50:23 +01:00 (CET) Date last edited N/A

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