Global Variome shared LOVD

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Phenotype #0000073436 Individual ID 00095048 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details long philtrum, low set posteriorly rotated ears, no growth abnormalities, global developmental delay, aggressive outbursts, hyperactivity, vocal and motor tics, sleep disorder, shy personality, avoids social contacts, no neurological features Inheritance Familial, X-linked recessive Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-01-05 19:37:15 +01:00 (CET) Date last edited N/A

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