Phenotype #0000340229

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451554
Associated disease	?
Diagnosis/Initial	retinitis pigmentosa
Diagnosis/Definite	RP14
Phenotype details	no night vision; day vision 20/80; normal color vision; no nystagmus; no corneal haze; no photophobia
Inheritance	Familial, autosomal recessive
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Rabia Basharat
Database submission license
Created by	Johan den Dunnen
Date created	2024-06-10 15:00:36 +02:00 (CEST)
Date last edited	N/A

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