Phenotype #0000016133

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00017797
Associated disease	NPHP1
Phenotype details	all affected sibs died at 2y from kidney failure; renal biopsies consistent with nephronophthisis; ons sib suffered from seizures, evidence of cerebral atrophy (imaging)
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-06-28 22:55:11 +02:00 (CEST)
Date last edited	N/A

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