Global Variome shared LOVD

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Phenotype #0000239031 Individual ID 00315279 Associated disease NPS Inheritance Familial, autosomal dominant Diagnosis/Initial nail patella syndrome Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Phenotype details bilateral clinodactyly and the fingernails dysplasia, bilateral coxa valga ; no eye anomalies; bilateral renal hypodysplasia and bilateral VUR grade III; kidney neonatale renal failure with serum creatinine concentration 2.3 mg/dl, ultrasonographic evidence of small kidney, associated with both hyperechogenicity and lack of cortical-medullary differentiation; 7y-renal transplant Protein - Owner name Susanna Negrisolo Database submission license No license selected Created by Matthew Bower Date created 2016-04-12 10:03:20 +02:00 (CEST) Date last edited N/A

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