Global Variome shared LOVD

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Phenotype #0000321890 Individual ID 00431290 Associated disease NPHS Phenotype details 1m-proteinuria; 1m-end stage renal disease; 6w-died; biopsy diffuse mesangial sclerosis; primary microcephaly, developmental delay; MRI cranial reduced gyration, cerebellar hypoplasia, abnormal myelination; long convex beaked nose, thin upper lip, down turned corners of the mouth, micrognathia, pointed chin skeletal: arachnodactyly, adducted thumbs, dislocated hips, talipes calcaneovalgus (after oligohydramnios); congenital nephrotic syndrome Diagnosis/Initial nephrotic syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite GAMOS3 Age/Examination 1m15d 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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