Global Variome shared LOVD

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Phenotype #0000038742 Individual ID 00052123 Associated disease KLEFS Intellectual_dis - Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; childhood hypotonia, facial dysmorphism; ventricular septum defect aortic coarctation, no epilepsy, micropenis, cryptorchidism, vesico-ureteral reflux, hearing loss inguinal, peri-umbilical and epigastric hernia, MRI-mildly dilated ventricles, reduction in white matter volume; frustration and tantrums; severely delayed; speech only few words, uses signing and picture cards Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight 3200 (25th), OFC 33cm (2nd) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-10-16 12:32:12 +02:00 (CEST) Date last edited N/A

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