Phenotype #0000310146

Individual ID 00418849
Associated disease NPHP1
Phenotype details initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 10y6m (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: y
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite nephronophthisis
Age/Examination 10y6m (10 years, 6 months)
Age/Diagnosis -
Age/Onset 4y
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 23:39:38 +02:00 (CEST)
Date last edited N/A

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