Global Variome shared LOVD

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Phenotype #0000338835 Individual ID 00449661 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., no cardiac anomalies; no urogenital anomalies; ophthalmological anomalies; developmental delay; intellectual disability; mild autistic features; no epilepsy; no facial dysmorphisms; no hand dysmorphisms; synophrys; no hypotonia Inheritance Isolated (sporadic) Age/Examination 18y (18 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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