Global Variome shared LOVD

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

Phenotype #0000029096 Individual ID 00038701 Associated disease ICF Phenotype details facial anomalies (HP:0001999), no gastrointestinal problems, infections (pneumonia, pneumocystis); IgG 0.23 g/l, IgA 0.06g/l, IgM 0.05 g/l; cytogenetic abnormalities include stretching, associations, rosettes, branching, micronuclei, decondensation Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth/Weight 1770g Infections yes Protein - Development no Intellectual_dis ? Owner name Peter Thijssen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-05-22 11:01:09 +02:00 (CEST) Date last edited 2015-05-22 11:06:27 +02:00 (CEST)

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