Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000250426 Individual ID 00332239 Associated disease ? Diagnosis/Initial nephrotic syndrome, neurologic disease Diagnosis/Definite - Phenotype details 13y9m-onset renal disease; 19.7y-onset end-stage renal disease; steroid-resistant nephrotic syndrome; biopsy focal segmental glomerulosclerosis; 1.5y-onset developmental delay; 1.5y-onset epilepsy; epilepsy, posterior fossa dilatation and cerebral atrophy, spastic dystonic quadriplegia 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 International 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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