Global Variome shared LOVD

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

Phenotype #0000029118 Individual ID 00038729 Associated disease ICF3 Phenotype details facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia); IgG 2.8 g/l, IgA <0.04 g/l, IgM 0.23 g/l; cytogenetic abnormalities include stretching, multiradial configuration Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth/Weight 1960g Infections yes Protein - Development motor Intellectual_dis yes 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 11:20:42 +02:00 (CEST) Date last edited 2015-07-05 12:12:36 +02:00 (CEST)

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