Global Variome shared LOVD

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Phenotype #0000352205 Individual ID 00466842 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see paper; ..., hair loss, painful hyperkeratotic lesions, birth sparse scalp hair; periodic high fevers caused by recurrent infections, rough skin, photophobia; palmoplantar keratoderma; 29y-no scalp hair, eyebrows, no eyelashes, dry skin, rough body skin, diffuse follicular hyperkeratosis scalp/trunk, photophobia, myopia , periorificial keratotic plaques mouth, anal palmoplantar keratoderma, nail dystrophy with pachyonychia, normal hearing, normal sweating, normal mucosa, no short stature, no seizures, no inguinal hernia Inheritance Familial, X-linked recessive Age/Examination 29y (29 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 2025-09-24 08:45:15 +02:00 (CEST) Date last edited N/A

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