Global Variome shared LOVD

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Phenotype #0000341663 Individual ID 00453019 Associated disease KLEFS Intellectual_dis - Diagnosis/Initial Kleefstra syndrome phenotypic spectrum Phenotype details moderate intellectual disability; language and motor delay; behavior problems, autistic traits; no childhood hypotonia; epilepsy; thoracal kyphosis; phenylketonuria; recurrent respiratory infections Diagnosis/Definite KLEFS2 Inheritance Isolated (sporadic) Age/Examination 29y (29 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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