Global Variome shared LOVD

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Phenotype #0000358899 Individual ID 00474099 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDISHM Phenotype details see paper; ..., born at term, uneventful pregnancy, normal birth weight; 8m-tonic-clonic seizures; early-onset intellectual disability; severe developmental delay, 30m-walk; one spontaneous abortion; MRI brain normal; profound speech delay, restricted vocabulary/comprehension Inheritance Familial, autosomal recessive Age/Examination <15y (before 15 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 2026-03-10 19:07:49 +01:00 (CET) Date last edited 2026-03-10 19:28:28 +01:00 (CET)

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