Phenotype #0000285389

Individual ID 00392111
Associated disease XLHR
Phenotype details see paper; ..., moderate bone phenotype, height (SD-3.1), phosphate serum level 2.4 mg/dl, tubular reabsorption of phosphate 0.66, 25 hydroxy vitamin D 54.2 ng/mL, 1,25 dihydroxi vitamin D 39.8 pg/ml, parathyroid hormone 58 pg/mL, alkaline phosphatase 856, nephrocalcinosis after treatment, no hyperparathyroidism
Diagnosis/Initial hypophosphatemic rickets
Inheritance Isolated (sporadic)
Diagnosis/Definite XLHR
Age/Examination -
Age/Diagnosis 1y6m
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-21 10:41:24 +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.
  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.