Phenotype #0000028454

Global Variome shared LOVD

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

Individual ID	00037911
Associated disease	LCA
Phenotype details	Severe visual impairment at birth, pendular nystagmus, roving eye movements, eye poking, inability to follow light or objects, normal fundus, extinguished ERG
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	?
Protein	-
Owner name	Frans Cremers
Database submission license
Created by	Frans Cremers
Date created	2015-05-01 22:00:00 +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.