Global Variome shared LOVD

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Phenotype #0000350718 Individual ID 00465182 Associated disease HJS Diagnosis/Initial Houge-Janssens syndrome Diagnosis/Definite - Phenotype details see paper; ..., moderate neurodevelopmental delay; severe epilepsy; heigth SD+2, OFC SD+5.4; hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain large cisterna magna Inheritance Isolated (sporadic) Age/Examination 7y (7 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 2025-04-14 16:12:37 +02:00 (CEST) Date last edited N/A

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