Global Variome shared LOVD

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Phenotype #0000350727 Individual ID 00465191 Associated disease HJS Diagnosis/Initial Houge-Janssens syndrome Diagnosis/Definite - Phenotype details see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+4.4; neonatal lethargy; no hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain abnormal sulcation Inheritance Isolated (sporadic) Age/Examination 14y (14 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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