Global Variome shared LOVD

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

Phenotype #0000082874 Individual ID 00104982 Associated disease AT Phenotype details HP:0008348 Immunoglobulin IgG2 deficiency;HP:0000524 Conjunctival telangiectasia; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0002837 Recurrent bronchitis; HP:0005407 Decreased number of CD4+ T cells Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 03y (3 years) Age/Diagnosis 04y Age/Onset 00y Phenotype/Onset 00y Protein - Owner name Jekaterina Shubina Database submission license No license selected Created by Jekaterina Shubina Date created 2017-06-14 13:04:22 +02:00 (CEST) Date last edited 2017-06-16 20:06:31 +02:00 (CEST)

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