Global Variome shared LOVD

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Phenotype #0000311223 Individual ID 00419957 Associated disease IMAGE Phenotype details see paper; ..., intrauterine growth retardation; adrenal insufficiency; no genitourinary abnormality; immunodeficiency; Café au lait patches,; diffuse large B-cell lymphoma; 9y-delayed mental development, intellectual disability IQ33 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite IMAGE1 Age/Examination 11y (11 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 17:37:19 +02:00 (CEST) Date last edited 2022-10-27 19:26:11 +02:00 (CEST)

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