Global Variome shared LOVD

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

Phenotype #0000311239 Individual ID 00419973 Associated disease IMAGE Phenotype details intrauterine growth restriction; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; café au lait patches; seizures; osteopenia; osteoporosis; nodular sclerosis; Hodgkin’s lymphoma Diagnosis/Initial IMAGe syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite IMAGE1 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 2022-10-27 21:13:16 +02:00 (CEST) Date last edited N/A

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