Phenotype #0000250425

Individual ID 00332238
Associated disease ?
Diagnosis/Initial nephrotic syndrome, neurologic disease
Diagnosis/Definite -
Phenotype details 1d-onset renal disease; 1.1y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy diffuse mesangial sclerosis; 4.9y-transplant, no rejection; <1y-onset developmental delay; 2y-onset epilepsy; epilepsy, global developmental delay, cerebral atrophy, hypotonia
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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