Global Variome shared LOVD

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Phenotype #0000352024 Individual ID 00466660 Associated disease KFSD Diagnosis/Initial keratosis follicularis spinulosa decalvans Diagnosis/Definite KFSDX Phenotype details see paper; ..., birth little hair, rough skin; 1y-no scalp hair; 20y-complete alopecia, no eyebrows, no eyelashes, dry skin, widespread follicular papules, normal teeth, no intellectual disability, no photophobia performance Inheritance Familial, X-linked recessive Age/Examination 20y (20 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 10:35:09 +02:00 (CEST) Date last edited N/A

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