Global Variome shared LOVD

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Phenotype #0000338832 Individual ID 00449658 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., MRI brain anomalies; cardiac anomalies; urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; no autistic features; epilepsy (effectively treated with Levetiracetam); facial dysmorphisms; no hand dysmorphisms; no synophrys; hypotonia; no attention-deficit/hyperactivity disorder Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2024-04-29 16:49:29 +02:00 (CEST) Date last edited N/A

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