Phenotype #0000316142

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424943
Associated disease	RP
Diagnosis/Initial	retinitis pigmentosa
Diagnosis/Definite	-
Phenotype details	2y-hearing impairment, followed by vision problems; retinal dystrophy; 11y-unspecified chest pain, 15y-epistaxis, 17y-cardiac arrhythmia – bradycardia, 17y-syncope
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	02y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-23 20:31:29 +01:00 (CET)
Date last edited	N/A

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