Global Variome shared LOVD

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

Phenotype #0000029122 Individual ID 00038734 Associated disease ICF3 Phenotype details facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (pneumonia, candida); IgG 1.11 g/l, IgA 0.06 g/l, IgM 0.04 g/l Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth/Weight 2250g Infections yes Protein - Development no motor Intellectual_dis no Owner name Peter Thijssen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-05-29 11:53:41 +02:00 (CEST) Date last edited 2015-07-05 12:14:51 +02:00 (CEST)

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