Phenotype #0000321870

Individual ID	00431270
Associated disease	NPHS
Phenotype details	4m-proteinuria; 5m-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 4m-minimal change nephrotic syndrome; primary microcephaly, seizures, spasticity, developmental delay, severe intellectual disability; MRI cranial enlarged subdural/subarachnoid spaces, cerebellar atrophy/hypoplasia, abnormal myelination vision/hearing: nystagmus skeletal: short stature; bilateral vur III, swallowing difficulties (percutaneous endoscopic gastrostomy); infantile nephrotic syndrome
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS2
Age/Examination	-
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