Global Variome shared LOVD

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Phenotype #0000306867 Individual ID 00415066 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., 8y-died, profound developmental delay, no speech, unable to sit; 2m-focal, myoclonic seizures; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, short stature, low weight; no congenital heart defect Inheritance Familial, autosomal dominant Age/Examination 08y (8 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 2022-08-06 22:07:04 +02:00 (CEST) Date last edited 2022-08-08 15:15:37 +02:00 (CEST)

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