Global Variome shared LOVD

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

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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-06 20:38:44 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.