Global Variome shared LOVD

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Phenotype #0000328640 Individual ID 00438742 Associated disease DEE Diagnosis/Initial global developmental delay Diagnosis/Definite MRD56 Phenotype details see paper; ..., global developmental delay, 5y-borderline intellectual disability; no seizures; MRI brain T2 hypersignal in white matter (hypomyelination); ADHD, impulsivity, poor socialization skills, mild hypotonia, wide-based gait Inheritance Isolated (sporadic) Age/Examination 11y02m (11 years, 2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 13:50:43 +02:00 (CEST) Date last edited N/A

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