Phenotype #0000288066

Individual ID 00394865
Associated disease XLHR
Phenotype details height 126 cm (SD -4.06), O-bowed legs, severe bone phenotype, dental caries, bone pain, cataclasis, muscle weakness
Diagnosis/Initial hypophosphatemic rickets
Inheritance Familial, X-linked dominant
Diagnosis/Definite XLHR
Age/Examination -
Age/Diagnosis 12y
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 2021-12-02 14:24:39 +01:00 (CET)
Date last edited 2021-12-02 14:44:36 +01:00 (CET)

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.