Phenotype #0000310133

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00418836
Associated disease	NPHP1
Phenotype details	age at end-stage renal failure: 19y; extrarenal manifestations: retinitis pigmentosa
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	nephronophthisis
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-07 15:55:50 +02:00 (CEST)
Date last edited	N/A

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