Phenotype #0000321873

Individual ID	00431273
Associated disease	NPHS
Phenotype details	2y-proteinuria; 8y-end stage renal disease; 25y-died; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, intellectual disability, hypotonia, dysmetria; MRI cranial polymicrogyria, poor myelination of the cerebral white matter, diffuse cerebellar atrophy; narrow forehead, high arched palate, micrognathia skeletal: scoliosis, arachnodactyly; nephrotic syndrome
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS2
Age/Examination	25y (25 years)
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