Global Variome shared LOVD

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Phenotype #0000310104 Individual ID 00418807 Associated disease NPHP1 Phenotype details serum creatinine rate (mmol/l): 419; calculated glomerular filtration rate (ml/min): 16; proteinuria (g/day): 1.6; haematuria: -; blood pressure (mmhg): 130/80; late enuresis: -; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy, neurologic bladder Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination - Age/Diagnosis 25y 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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