Global Variome shared LOVD

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Phenotype #0000352025 Individual ID 00466661 Associated disease KFSD Diagnosis/Initial keratosis follicularis spinulosa decalvans Diagnosis/Definite KFSDX Phenotype details see paper; ..., mild photophobia; angular cheilitis, dystrophic nails, no scalp hair, no eyebrows, no eyelashes, spiky follicular hyperkeratosis predominantly on scalp and extensor surfaces extremities;normal hearing, normal vision, normal growth development, no intellectual disability Inheritance Unknown Age/Examination 06y (6 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 2025-09-19 13:27:03 +02:00 (CEST) Date last edited N/A

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