Phenotype #0000250431

Individual ID 00332244
Associated disease ?
Diagnosis/Initial nephrotic syndrome, neurologic disease
Diagnosis/Definite -
Phenotype details 6y-onset renal disease; 14y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 14y-transplant, no rejection; 1.5y-onset developmental delay; NA; mild global developmental delay, Tourette’s syndrome-like symptoms, autism spectrum
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-15 21:39:28 +01:00 (CET)
Date last edited N/A

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