Global Variome shared LOVD

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Phenotype #0000321874 Individual ID 00431274 Associated disease NPHS Phenotype details 10m-proteinuria; 3y-end stage renal disease; 3y-died; primary microcephaly, developmental delay, hypotonia; MRI cranial bilateral myelination defects vision/hearing: reduced visual evoked potential; nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS4 Age/Examination 3y (3 years) 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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