Global Variome shared LOVD

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Phenotype #0000038741 Individual ID 00052122 Associated disease KLEFS Intellectual_dis mild Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, gastro-oesophageal reflux, cryptorchidism (prenatal NT), MRI-corpus callosum hypoplasia; autism spectrum Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight 2690 (<5th) 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 12:14:46 +02:00 (CEST) Date last edited N/A

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