Phenotype #0000321869

Individual ID	00431269
Associated disease	NPHS
Phenotype details	3.8y-proteinuria; no end stage renal disease; 6y-alive with normal renal function; biopsy focal segmental glomerulosclerosis; primary microcephaly, developmental delay, mild intellectual disability, progressive spasticity (wheelchair bound at 5.5y), coordination disorder, ataxia; MRI cranial pachygyria, periventricular leukomalacia; elongated face, epicanthal folds, slight hypertelorism, deep-set eyes, fleshy ear lobules, prominent chin; steroid resistant nephrotic syndrome (nephrotic range proteinuria, no edema, serum albumin 3.9 g/L)
Diagnosis/Initial	nephrotic syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GAMOS5
Age/Examination	6y (6 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