Phenotype #0000310064

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00418769
Associated disease	NPHP1
Phenotype details	ophthalmic signs: refractory disturbances; modality: renal transplantation; cysts on ultrasound: yes; histopathology: no data
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	nephronophthisis
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	14y
Phenotype/Onset	acute on chronic renal failure
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-06 11:53:06 +02:00 (CEST)
Date last edited	N/A

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