Global Variome shared LOVD

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Phenotype #0000350731 Individual ID 00465195 Associated disease HJS Diagnosis/Initial Houge-Janssens syndrome Diagnosis/Definite - Phenotype details see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; hypotonia; congenital pyloric stenosis; tall forehead, high palate; eye vision CVI; MRI brain mildly enlarged ventricles Inheritance Isolated (sporadic) Age/Examination 16y (16 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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