Phenotype #0000280954

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00387391
Associated disease	-
Phenotype details	posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: FC/HM, hearing loss
Diagnosis/Initial	Retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Retinitis pigmentosa
Age/Examination	56y (56 years)
Age/Diagnosis	-
Age/Onset	30y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-10-29 09:42:54 +02:00 (CEST)
Date last edited	N/A

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