Phenotype #0000067386

Global Variome shared LOVD

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

Individual ID	00087860
Associated disease	LCA
Phenotype details	Irregular horizontal nystagmus; mild horizontal head titubation; onset at age 6 months;hyperopia 4.00d; erg nonrecordable; 2 disc pallor; mild vascular attenuation;atrophic foveal light reflexes; minimal rpe degeneration
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	?
Phenotype/Onset	-
Protein	-
Owner name	Raheel Qamar
Database submission license	No license selected
Created by	Raheel Qamar
Date created	2012-09-06 09:49:01 +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.