Global Variome shared LOVD

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Phenotype #0000352068 Individual ID 00466705 Associated disease IFAP Diagnosis/Initial IFAP syndrome Diagnosis/Definite IFAP1 Phenotype details see paper; ..., congenital alopecia, microcephaly, dermatitis; seizures, neurodevelopmental regression; wheelchair-bound, tube-feeding diet, nonresponsive to verbal command; superficial punctate keratopathy in central band distribution, myopia, central optic nerve head large cupping; mother retinal venous tortuosity Inheritance Familial, X-linked recessive Age/Examination 12y/9y 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 15:00:43 +02:00 (CEST) Date last edited N/A

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