Phenotype #0000321872

Individual ID 00431272
Associated disease NPHS
Phenotype details 5m-proteinuria; 22m-end stage renal disease; 25m-died; biopsy 1om-focal segmental glomerulosclerosis; primary microcephaly, abnormalities in motor development, speech delay, spasticity vision/hearing: strabism skeletal: short stature; steroid resistant nephrotic syndrome (steroid, immuno-suppression, dialysis)
Diagnosis/Initial nephrotic syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite GAMOS3
Age/Examination 2y1m (2 years, 1 month)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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