Global Variome shared LOVD

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Phenotype #0000038737 Individual ID 00052118 Associated disease KLEFS Intellectual_dis severe Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; weight 95th, height 50th, OFC 50th; childhood hypotonia, facial dysmorphism; patent FO (closed spontaneously), no epilepsy, constipation incontinent for urine/faeces, MRI-normal; temper tantrums/tics, rigid and ritualistic behaviour, apathic/depressive behaviour with loss of all interests since age 13 years; walk-30m; speech 3–4 words Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight 4000 (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 11:48:11 +02:00 (CEST) Date last edited N/A

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