Global Variome shared LOVD

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Phenotype #0000366312 Individual ID 00482038 Associated disease NPHS Phenotype details see paper; ..., developmental delay; mixed glomerular/tubular proteinuria, glucosuria, aminoaciduria; 9m-ESKD; microcephaly, abnormal gyration, Dandy-Walker malformation; narrow forehead; microcoria, corneal clouding; atrial septal defect; polydactyly, nail hypoplasia 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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