Phenotype #0000350730

Individual ID	00465194
Associated disease	HJS
Diagnosis/Initial	Houge-Janssens syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC normal; neonatal poor feeding, jaundice; mild hypotonia; tall forehead; autism spectrum disorder; eye vision CVI; MRI brain hyperintense white matter foci
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.

Global Variome shared LOVD