Global Variome shared LOVD

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

Phenotype #0000040161 Individual ID 00053459 Associated disease XLA;AGMX1 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Diagnosis: Mild XLA; Symptoms: Growth hormone deficiency Inheritance Unknown Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Kinase activity - IgA (g/l) <0.066 IgE (g/l) - IgG (g/l) 2.60 IgG1 (g/l) - IgG2 (g/l) - IgG3 (g/l) - IgG4 (g/l) - IgM (g/l) 0.17 B cells (%) - B cells surf Ig (%) - CD3 - CD4 - CD8 - CD19 <1 CD20 <1 Protein - Owner name Patrizia Melia Database submission license No license selected Created by Patrizia Melia Date created 1995-05-30 00:00:00 +02:00 (CEST) Date last edited 2018-06-25 14:13:14 +02:00 (CEST)

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