Phenotype #0000174517

Individual ID 00234096
Associated disease OI
Phenotype details Height/weight 66cm at 8m; blue sclerae (HP:000592); multiple fractures (HP:0002757) (5)
Diagnosis/Initial osteogenesis imperfecta
Inheritance Unknown
Diagnosis/Definite OI-1
Age/Examination 18m
Age/Onset -
Phenotype/Onset -
Protein collagen screen inconclusive
Owner name Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Global Variome, with Curator vacancy
Date created 2019-01-13 12:23:00 +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.