Global Variome shared LOVD

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Phenotype #0000250428 Individual ID 00332241 Associated disease ? Diagnosis/Initial nephrotic syndrome, neurologic disease Diagnosis/Definite - Phenotype details 7y11m-onset renal disease; 9.8y-onset end-stage renal disease; hypertension; nephrotic-range proteinuria; steroid resistant; biopsy focal segmental glomerulosclerosis; 2.5y-onset developmental delay; 2.5y-onset epilepsy; epilepsy, global developmental delay, secondary microcephaly Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-15 21:39:28 +01:00 (CET) Date last edited N/A

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