Global Variome shared LOVD

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Phenotype #0000352034 Individual ID 00466671 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see paper; ..., 34w-birth, weight 10th-25th centile, height <10th centile, no hair, eczematous scaling erythema, xerosis with spiny follicular hyperkeratosis; frequent scalp skin infection; 11m-seizures; photosensitivity no eye anomalies; global developmental delay Inheritance Familial, X-linked recessive Age/Examination 01y09m (1 year, 9 months) 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 14:30:55 +02:00 (CEST) Date last edited N/A

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