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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.