Phenotype #0000366311

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00482037
Associated disease	NPHS
Phenotype details	see paper; ..., developmental delay; glomerular proteinuria (infantile nephrotic syndrome); 4y-ESKD; normal central nervous system; no facial dysmorphisms; no ocular defect; no cardiac effect; no skeletal defect
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-08-03 13:40:51 +02:00 (CEST)
Date last edited	N/A

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