Global Variome shared LOVD

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Phenotype #0000038745 Individual ID 00052126 Associated disease KLEFS Intellectual_dis yes Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; weight 50th, height 2nd, OFC 0.6th; childhood hypotonia, facial dysmorphism; no heart defect, Absences tonic-clonic insults, scoliosis, MRI-small pons, slight central atrophy of both hemispheres (peg examination); disturbed sleep pattern, aggressive outbursts, active and passive periods ; regression, sit-18m, walk-4y; speech few words when young (papa, mama, car) Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight normal 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 13:52:02 +02:00 (CEST) Date last edited N/A

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