Global Variome shared LOVD

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Phenotype #0000038746 Individual ID 00052127 Associated disease KLEFS Intellectual_dis yes Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; weight 2nd, height 2nd, OFC 5th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, tracheo-/bronchomalacia, chronic renal insufficiency, MRI-small brainstem; no walk-7y; speech 7y-3 words Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight 50th 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 14:01:06 +02:00 (CEST) Date last edited N/A

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