Global Variome shared LOVD

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Phenotype #0000242032 Individual ID 00319931 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD52 Inheritance Familial, autosomal dominant Phenotype details see paper; ..., intellectual disability, behavioral problems, flat face, flat nasal bridge, short upturned nose, thin lips, small ears Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-11 11:57:19 +01:00 (CET) Date last edited N/A

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