Global Variome shared LOVD

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

Phenotype #0000092122 Individual ID 00116672 Associated disease IFAP1 Phenotype details birth-full head dark hair; 4m-hair shed, no new hair appeared (scalp/eyebrows); 18m-total alopecia, complete absence scalp hair, eyebrows, diminutive eyelashes, dry skin widespread follicular papules, normal teeth, no dysmorphic features, not photophobic, sweat test normal; 10y-prominent generalized follicular ichthyosis, dystrophy fingernails, mild photophobia, astigmatism, recurrent staphylococcal folliculitis, psoriasiform plaques elbows, knees, Achilles tendons; IFAPS Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Emmelien Aten Database submission license No license selected Created by Emmelien Aten Date created 2009-08-18 09:19:58 +02:00 (CEST) Date last edited 2017-08-08 19:45:17 +02:00 (CEST)

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