Global Variome shared LOVD

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Phenotype #0000092161 Individual ID 00116641 Associated disease IFAP1 Phenotype details IFAP triad and follicular hyperkeratosis; punctate epithelial erosions of the cornea with corneal vascularisation; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay; inguinal hernia; IFAP syndrome Diagnosis/Initial - Inheritance Familial, X-linked dominant, male sparing Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Karl-Heinz Grzeschik Database submission license No license selected Created by Karl-Heinz Grzeschik Date created 2012-11-27 12:17:37 +01:00 (CET) Date last edited N/A

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