Phenotype #0000350723

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465187
Associated disease	HJS
Diagnosis/Initial	Houge-Janssens syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+3.2; hypotonia; tall forehead, hypertelorism; autism spectrum disorder; normal eye vision; MRI brain normal
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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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