Global Variome shared LOVD

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Phenotype #0000318714 Individual ID 00427700 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., age onset teenage; moderate intellectual disability; no neurological features in infancy; normal hearing; normal vision; brisk reflexes, increased peripheral tone; delayed speech, speaks in short phases, articulation disorder; hyperactivity; severe anxiety (can become catatonic) treated with escitalopram; 13m-onset seizures, atypical tonic clonic seizures associated with fevers; CT brain childhood-normal; weight 50th centile; height 75th centile; OFC 10th centile; broad mouth, short philtrum, mild micrognathia.; no gastrointestinal symptoms Inheritance Isolated (sporadic) Age/Examination 39y (39 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 2022-12-12 19:44:10 +01:00 (CET) Date last edited N/A

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