Global Variome shared LOVD

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

Phenotype #0000092167 Individual ID 00116647 Associated disease IFAP1 Phenotype details Complete atrichia, pronounced mental retardation, short stature, mild photophobia, scarring of cornea at age 3 y, ichthyotic skin, hyperkeratotic nails, mediastinal germ cell tumor at age 20 y; IFAP syndrome Diagnosis/Initial - Inheritance Familial 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 10:07:17 +01:00 (CET) Date last edited N/A

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