Phenotype #0000308429

Individual ID	00416918
Associated disease	EVR2
Phenotype details	whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease; proband born in to healthy parents with an uncomplicated delivery; maternal uncle, maternal grandmother and maternal grand uncles had a history of congenital blindness and hearing loss; 14d: bilateral tractional retinal detachments andvitreous hemorrhage with normal anterior segments and clear lenses; mother phenotypically completely normal
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-10 20:47:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD