Phenotype #0000203034

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265208
Associated disease	EVR;FEVR
Phenotype details	familial exudative vitreoretinopathy (HP:0030490), microphthalmia (HP:0000568), detached retina (HP:0000541), small optic nerve (HP:0008058)
Diagnosis/Initial	Norrie-like retinopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jasmine Chen
Database submission license	No license selected
Created by	Jasmine Chen
Date created	2019-09-14 15:26:19 +02:00 (CEST)
Date last edited	2019-09-16 08:46:18 +02:00 (CEST)

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