Global Variome shared LOVD

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Phenotype #0000358830 Individual ID 00474035 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDISHM Phenotype details see paper; ..., no intellectual disability Inheritance Familial, autosomal recessive Age/Examination 17y (17 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 2026-03-09 09:39:21 +01:00 (CET) Date last edited N/A

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