Global Variome shared LOVD

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Phenotype #0000310141 Individual ID 00418844 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): 2y8m (hemodialysis); cysts on ultrasound: +; histopathologic triad: present; bone age: 2y6m Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination 3y6m (3 years, 6 months) Age/Diagnosis - Age/Onset 1y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-07 23:39:38 +02:00 (CEST) Date last edited N/A

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