Phenotype #0000161683

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213208
Associated disease	NPHPRC
Phenotype details	increased echogenicity, medullary cysts, proteinuria, cortical deafness, atrial septal defect, growth retardation, short stature, coloboma, aplasia of vermis, corpus callosum hypoplasia; 5y-end-stage renal disease
Diagnosis/Initial	nephronophthisis
Inheritance	Familial, autosomal recessive
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	2019-01-12 11:31:29 +01:00 (CET)
Date last edited	N/A

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