Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000352041 Individual ID 00466678 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see p`per; ..., diffuse follicular hyperkeratosis, alopecia, photophobia; 3m-no hair, no eyelashes, no eyebrows Inheritance Familial, X-linked recessive Age/Examination 11y (11 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 2025-09-22 19:51:35 +02:00 (CEST) Date last edited N/A

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