Global Variome shared LOVD

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Phenotype #0000311225 Individual ID 00419959 Associated disease IMAGE Phenotype details intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; scoliosis; osteopenia; small patella; seizures; gastrostomy; eczema Diagnosis/Initial IMAGe syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite IMAGE1 Age/Examination 18y (18 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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