Global Variome shared LOVD

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

Phenotype #0000059467 Individual ID 00079756 Associated disease - Phenotype details growth hormone insensitivity with immunodeficiency, short stature, congenital ichthyosis, hemorrhagic chickenpox; no signs of immunodeficiency Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-11-08 03:23:00 +01:00 (CET) Date last edited 2019-12-08 11:24:16 +01:00 (CET)

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