Global Variome shared LOVD

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Phenotype #0000310145 Individual ID 00418848 Associated disease NPHP1 Phenotype details initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: seizures, ocularnonemotor apraxia, retinitis pigmentosa, mental retardation, molar tooth sign; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 9y (hemodialysis); cysts on ultrasound: 0; histopathologic triad: not done; bone age: 5y6m Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nephronophthisis Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 4y 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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