Global Variome shared LOVD

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Phenotype #0000350734 Individual ID 00465198 Associated disease HJS Diagnosis/Initial Houge-Janssens syndrome Diagnosis/Definite - Phenotype details see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.4; mild hypotonia; congenital coloboma; no facial dysmorphism; no autism spectrum disorder; coloboma; MRI brain large corpus callosum Inheritance Isolated (sporadic) Age/Examination 2y4m (2 years, 4 months) 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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