Global Variome shared LOVD

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Phenotype #0000092117 Individual ID 00116638 Associated disease IFAP1 Phenotype details congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset - Protein - Owner name Emmelien Aten Database submission license No license selected Created by Emmelien Aten Date created 2012-06-06 14:19:35 +02:00 (CEST) Date last edited 2017-08-08 19:34:23 +02:00 (CEST)

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