Global Variome shared LOVD

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

Phenotype #0000059465 Individual ID 00079754 Associated disease - Phenotype details growth hormone insensitivity with immunodeficiency, severe growth failure, history of pruritic skin lesions,recurrent pulmonary infections Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 16y05m (16 years, 5 months) 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 01:03:42 +01:00 (CET) Date last edited 2019-12-08 11:17:04 +01:00 (CET)

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