Global Variome shared LOVD

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Phenotype #0000351346 Individual ID 00465946 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite DEDISB Phenotype details see paper; ..., motor delay; speech delay; mild delay; behavioral problems; autism spectrum disorder, hyperactivity; moderate intellectual disability; no neurological features; no neurosensory disorders; brachycephaly, long and thin fingers, plagiocephaly, low-set large ears; no epilepsy Inheritance Familial, autosomal dominant Age/Examination 13y (13 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 11:45:26 +02:00 (CEST) Date last edited N/A

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