Phenotype #0000228471

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301202
Associated disease	-
Phenotype details	retinitis pigmentosa, no hepatic fibrosis, no skeletal malformations (postaxial hexadacty mother/brother), normal heart, normal kidney
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	52y (52 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-08 19:14:39 +02:00 (CEST)
Date last edited	N/A

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