Global Variome shared LOVD

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

Phenotype #0000044576 Individual ID 00057926 Associated disease PN Phenotype details Diffuse poikiloderma, severe neutropenia, recurrent infections (otitis, bronchitis and gastroenteritis), saddle nose, hypertelorism, short stature, palmoplantar hyperkeratosis, onychodystrophy, delayed bone maturation, moderate splenomegalia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 20y Age/Onset 00y06m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-11-25 16:23:12 +01:00 (CET) Date last edited 2016-02-26 05:44:08 +01:00 (CET)

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