Phenotype #0000321865

Individual ID	00431265
Associated disease	NPHS
Phenotype details	1m-proteinuria; 4m-end stage renal disease; 5m-died; primary microcephaly, seizures, developmental delay, hypotonia; MRI cranial frontal pachygyria, cerebral atrophy, poor myelination, subependymal cysts, bilateral ventricular dilation; prominent occiput, prominent glabella, micrognathia vision/hearing: bilateral auditory and visual dysfunction shown by aep/ visual evoked potential skeletal: camptodactyly, arachnodactyly, clenched hands, mild hip contractures; intrauterine growth restriction, low-positioned nipples, cryptorchidism, relatively small penis; 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