Global Variome shared LOVD

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Phenotype #0000321875 Individual ID 00431275 Associated disease NPHS Phenotype details 1y-proteinuria; 2y6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy; large and protruding ears, hypertelorism; nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS4 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

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