Global Variome shared LOVD

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Phenotype #0000351352 Individual ID 00465952 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., birth hypoxia asphyxia; moderate speech delay; severe motor delay; autism spectrum disorder; intellectual disability; no neurosensory disorders; no facial dysmorphisms; epilepsy; MRI normal; EEG abnormal; mother has developmental delay and intellectual disability Inheritance Familial, autosomal dominant Age/Examination 2y (2 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 2025-06-20 18:05:48 +02:00 (CEST) Date last edited N/A

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