Global Variome shared LOVD

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Phenotype #0000366315 Individual ID 00482041 Associated disease NPHS Phenotype details see paper; ..., developmental delay; mixed glomerular/tubular proteinuria; ESKD; simplified gyration, Dandy-Walker malformation; trigonocephaly; microphthalmia, chorioretinal coloboma; atrial septal defect; polydactyly, pes calcaneus, dysplastic vertebrae Diagnosis/Initial Galloway-Mowat like syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14d 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 2026-08-03 13:40:51 +02:00 (CEST) Date last edited N/A

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