Phenotype #0000321888

Individual ID	00431288
Associated disease	NPHS
Phenotype details	6m-proteinuria; 2y-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 6m-focal segmental glomerulosclerosis; primary microcephaly, hypotonia, hyperreflexia, developmental delay, speech delay; MRI cranial poor myelination; dysmorphism vision/hearing: esotropia, hyperopia skeletal: camptodactyly heart: patent ductus arteriosus, atrial septal defect; infantile nephrotic syndrome
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS3
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