Global Variome shared LOVD

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Phenotype #0000358898 Individual ID 00474098 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDISHM Phenotype details see paper; ..., born at term, uneventful pregnancy, normal birth weight; three spontaneous early abortions; early-onset intellectual disability; severe developmental delay; 3y-tonic-clonic seizures, intellectual regression, motor regression; <50y-wheelchair-bound, , no speech, needs support with feeding/aily needs, tonic-clonic seizures persist Inheritance Familial, autosomal recessive Age/Examination <50y (before 50 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 19:29:18 +01:00 (CET)

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