Global Variome shared LOVD

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Phenotype #0000352070 Individual ID 00466707 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see paper; ..., brith dry skin, localized non-progressive non-scarring alopecia; 3y-hyperkeratosis feet; pronounced keratosis Achilles tendon; plantar keratoderma with transgrediens, ungual dysplasia; keratosis pilaris trunk/arms/legs.; esotropia, amblyopia, no photophobia; normal dentition, no intellectual disability; normal eyebrows, normal eyelashes Inheritance Unknown Age/Examination 16y (16 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 2025-09-23 15:20:44 +02:00 (CEST) Date last edited N/A

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