Phenotype #0000310103

Individual ID 00418806
Associated disease NPHP1
Phenotype details serum creatinine rate (mmol/l): 442; calculated glomerular filtration rate (ml/min): 12; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 115/70; late enuresis: +; polyuria and polydipsia: -; radiological features: kidneys size: reduced; 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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-07 11:23:57 +02:00 (CEST)
Date last edited N/A

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