Global Variome shared LOVD

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Phenotype #0000207324 Individual ID 00269493 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., developmental delay, no behavioral problems, no seizures, expressive and receptive language delay, relative macrocephaly, epicanthic folds, flat nasal bridge, posteriorly rotated ears, hyperkinesis with stereotypic movement of hands and feet, MRI brain normal Inheritance Unknown Age/Examination 2y6m (2 years, 6 months) 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 2019-11-28 19:57:10 +01:00 (CET) Date last edited N/A

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