Phenotype #0000285594

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00392318
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 1.0/1.0, electroretinograhy responses: rod absent, severe defect of cone function
Diagnosis/Initial	Retinitis pigmentosa, autosomal dominant
Inheritance	Familial, X-linked
Diagnosis/Definite	Retinitis pigmentosa, X-linked
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-11-22 16:18:49 +01:00 (CET)
Date last edited	N/A

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