Phenotype #0000333486

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00444233
Associated disease	CSNB
Phenotype details	see paper; ..., no strabismus, 3-4 Hz left beating jerk bilateral symmetric nystagmus
Diagnosis/Initial	congenital stationary night blindness
Inheritance	Familial, X-linked
Diagnosis/Definite	CSNB2A
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-21 09:57:54 +01:00 (CET)
Date last edited	N/A

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