Global Variome shared LOVD
RLBP1 (retinaldehyde binding protein 1)
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Curator:
Johan den Dunnen
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Phenotype #0000220789
Individual ID
00287040
Associated disease
EVR1
Phenotype details
axial length (OD/OS, mm): 15/16.6
intraocular pressur (OD/OS, mmHg): 7/3
"the proband is a 3-year-old girl who exhibited retinal detachment and a vitreous haemorrhage phenotype with an abnormal result in the ultrasound examination
Diagnosis/Initial
-
Inheritance
Familial
Diagnosis/Definite
FEVR
Age/Examination
03y (3 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Dong Sun
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Dong Sun
Date created
2020-02-11 14:28:23 +01:00 (CET)
Date last edited
2022-09-18 11:17:12 +02:00 (CEST)
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