Global Variome shared LOVD

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

Phenotype #0000029120 Individual ID 00038732 Associated disease ICF3 Phenotype details no facial anomalies (HP:0001999), gastrointestinal problems (chronic diarrhea HP:0002028), infections (otitis, pneumonia, mastoiditis, meningitis); IgG 2 g/l, IgA 0.27 g/l, IgM 0.25 g/l; cytogenetic abnormalities include stretching Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth/Weight 1820g Infections yes Protein - Development ? 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 11:38:30 +02:00 (CEST) Date last edited 2015-07-05 12:13:46 +02:00 (CEST)

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