Global Variome shared LOVD

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

Phenotype #0000310102 Individual ID 00418805 Associated disease NPHP1 Phenotype details serum creatinine rate (mmol/l): 225; calculated glomerular filtration rate (ml/min): 25; proteinuria (g/day): 0.2; haematuria: -; blood pressure (mmhg): 120/75; late enuresis: -; polyuria and polydipsia: -; radiological features: kidneys size: normal; cysts: 1 cortical (1 cm); extra renal-disorders:no Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination - Age/Diagnosis 22y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-07 11:23:57 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.