Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000239013 Individual ID 00315261 Associated disease FSGS Diagnosis/Initial FSGS Diagnosis/Definite - Phenotype details focal segmental glomerulosclerosis, normal hearing; kidney periodic acid–schiff staining revealed several segmentally sclerosed glomeruli, electron microscopy showed diffuse podo- cytopathy as evidenced by degenerative changes, microvillous transformation, vacuolization, and lysosome accumulation but with focal foot process effacement Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 68y Age/Onset 68y Phenotype/Onset - Protein - Owner name Matthew Bower Database submission license No license selected Created by Matthew Bower Date created 2014-05-01 23:33:30 +02:00 (CEST) Date last edited 2014-05-29 13:37:06 +02:00 (CEST)

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