Global Variome shared LOVD

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

Phenotype #0000310101 Individual ID 00418804 Associated disease NPHP1 Phenotype details serum creatinine rate (mmol/l): 261; calculated glomerular filtration rate (ml/min): 29; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 150/90; late enuresis: +; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination - Age/Diagnosis 19y 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

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