Global Variome shared LOVD

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Phenotype #0000350785 Individual ID 00465250 Associated disease NPHP Diagnosis/Initial nephronophthisis Diagnosis/Definite NPHP4 Phenotype details see paper; ..., anemia, no facial features, mild growth retardation, no mental retardation, general weakness, renal failure, uremia, polyuria, polydipsia, renal interstitial fibrosis, no liver fibrosis, no situs inversus, no cardiac dysfunction, no ocular problems, no auditory impairments, no skeletal abnormalities, no hypertension Inheritance Familial, autosomal recessive Age/Examination 27y (27 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-05-01 18:44:02 +02:00 (CEST) Date last edited N/A

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