Global Variome shared LOVD

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

Phenotype #0000321861 Individual ID 00431261 Associated disease NPHS Phenotype details 1d-proteinuria; no end stage renal disease; 14w-died; primary microcephaly; MRI cranial simplified gyri and sulci, pachygyria in the frontal lobes, reduced density of the frontal white matter; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2350 g at 36w ga); congenital nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 98d 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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