Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000223180 Individual ID 00001375 Associated disease NPS Inheritance Familial, autosomal dominant Diagnosis/Initial nail-patella syndrome Age/Examination 03y (3 years) Diagnosis/Definite NPS Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details proteinuria, hematuria, absent nails thumb and index fingers, hypoplastic nails in others; limited extension and supination elbow joints; urine mild hematuria, mild proteinuria, glucosuria; serum total protein 6.7 g/dL, albumin 3.5 g/dL, blood urea nitrogen 7 mg/dL, creatinine 0.2 mg/dL, uric acid 3.2 mg/dL, sodium 141 mEq/L, potassium 4.4 mEq/L, chloride 105 mEq/L, calcium 9.8mg/dL, phosphate 4.8 mg/dL, glucose 108 mg/dL; radiology iliac horns, absent patellae; no glaucoma; paternal grandfather died (35y) from renal insufficiency, father and paternal uncle proteinuria, hypoplastic nails Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-03-19 14:55:48 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.