Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000092176 Individual ID 00116655 Associated disease IFAP1 Phenotype details Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; 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 11:20:30 +01:00 (CET) Date last edited N/A

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