Global Variome shared LOVD

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

Phenotype #0000321862 Individual ID 00431262 Associated disease NPHS Phenotype details 1m-proteinuria; no end stage renal disease; 6m-died; primary microcephaly; MRI cranial brain atrophy, hypodense cerebral white matter, thin corpus callosum; floppy ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (840 g at 28w ga); congenital nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 6m 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

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