Global Variome shared LOVD

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Phenotype #0000038738 Individual ID 00052119 Associated disease KLEFS Intellectual_dis yes Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; weight 90th, height 90th, OFC 16th; childhood hypotonia, facial dysmorphism; no heart defect, First at age 7, generalised with right posterior focal onset, , MRI-mildly enlarged ventricles; poor eye contact, teeth grinding (all improving); walk-2y, jumping/running-7y; speech 3y-5 words, 7y->100 words Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight 3822 (75-90th) 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 11:54:15 +02:00 (CEST) Date last edited N/A

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