Phenotype #0000308423

Individual ID	00416911
Associated disease	EVR2
Phenotype details	3 months for poor visual development; term infant, birth weight of 3,000 g, otherwise healthy; pendular nystagmus; corneae: clear, anterior chambers: shallow; ophthalmoscopy: large retinal folds and a white temporal mass of apparent exudate that pulled the retinal vessels toward the temporal ora serrata and attached near the temporal posterior edge of the lens; bilateral congenital retinal folds initially diagnosed
Diagnosis/Initial	-
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	3m
Age/Diagnosis	3m
Age/Onset	-
Phenotype/Onset	poor visual development
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-09 19:20:30 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD