Global Variome shared LOVD

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Phenotype #0000366314 Individual ID 00482040 Associated disease NPHS Phenotype details see paper; ..., developmental delay; mixed glomerular/tubular proteinuria, aminoaciduria; 7m-ESKD; microcephaly, abnormal gyration, temporal lobe hypoplasia; narrow forehead; iris coloboma; , atrial septal defect; polydactyly, pes calcaneus Diagnosis/Initial Galloway-Mowat like syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 7d 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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