Global Variome shared LOVD

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Phenotype #0000341665 Individual ID 00453021 Associated disease KLEFS Intellectual_dis - Diagnosis/Initial Kleefstra syndrome phenotypic spectrum Phenotype details moderate intellectual disability, IQ50; language and motor delay; behavior problems, PDD-NOS, ADHD; childhood hypotonia; no epilepsy; no scoliosis/kyphosis; bifid uvula; hypospadia; bilateral inguinal hernia; brain MRI normal Diagnosis/Definite KLEFS2 Inheritance Isolated (sporadic) Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-08-14 11:08:45 +02:00 (CEST) Date last edited N/A

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