Phenotype #0000321863

Individual ID	00431263
Associated disease	NPHS
Phenotype details	1m-proteinuria; no end stage renal disease; 5m-died; biopsy diffuse foot process effacement; primary microcephaly, abnormal eeg recordings with diffuse cortical dysfunction; MRI cranial cerebral and cerebellar atrophy, simplified frontal and temporal gyration, white matter changes; flat nasal bridge, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2034 g at 39w ga); congenital nephrotic syndrome
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS3
Age/Examination	5m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-06 20:38:44 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD