Global Variome shared LOVD

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Phenotype #0000352030 Individual ID 00466667 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see paper; ..., ichthyosis, follicular, atrichia, photophobia, syndromepsoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities, chorea-like movements Inheritance Familial, X-linked recessive 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 2025-09-22 13:54:54 +02:00 (CEST) Date last edited 2025-09-22 13:56:38 +02:00 (CEST)

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