Phenotype #0000316140

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424941
Associated disease	RP
Diagnosis/Initial	retinitis pigmentosa
Diagnosis/Definite	-
Phenotype details	30y-incidental finding during routine check-up, asymptomatic; 43y-lamellar hole, 52y- bilateral cataracts; mild hearing impairment (formally not investigated)
Inheritance	Familial, autosomal recessive
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	30y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-23 16:54:42 +01:00 (CET)
Date last edited	N/A

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