Global Variome shared LOVD

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Phenotype #0000332741 Individual ID 00443400 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., global developmental delay, moderate intellectual disability; autistic features; no ADHD; aggressive behavior; intolerance to frustration, poor social skills; no seizure; hypotonia, weakness, spasticity, hyperreflexia; no dysmorphic features; bilateral pachygyria, mild cortical thickening fronto-temporal lobes; MRI brain normal corpus callosum Inheritance Familial, autosomal recessive Age/Examination 26y (26 years) 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 2023-11-26 09:10:30 +01:00 (CET) Date last edited N/A

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