Global Variome shared LOVD

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Phenotype #0000328658 Individual ID 00438760 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., global developmental delay, moderate intellectual disability; no seizures; EEG abnormal background activity, no epileptic charges; MRI brain central brain atrophy, bilateral periventricular white-matter damage, thin corpus callosum; acquired microcephaly, axial hypotonia, obesity, aggressive behavior Age/Examination 05y06m (5 years, 6 months) 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 2023-10-23 15:42:25 +02:00 (CEST) Date last edited N/A

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