Phenotype #0000350717

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465181
Associated disease	HJS
Diagnosis/Initial	Houge-Janssens syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2.2; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal
Inheritance	Isolated (sporadic)
Age/Examination	2y8m (2 years, 8 months)
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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