Global Variome shared LOVD

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

Phenotype #0000350587 Individual ID 00464601 Associated disease OI Phenotype details see paper; ..., 20w pregnancy terminated, abnormal ribs, short long bones, small chest size, hypomineralisation, tetralogy of Fallot, absent pulmonary valve, absent ductus venosus, micrognathia, no microcephaly; osteopenia; no fractures; bent and short long bones, hypoplastic and unossified vertebrae and pelvic bones; no scoliosis; small chest; hypertelorism, low-set ears, flat nasal bridge; narrow pulmonary valve, dilated pulmonary artery branches, overriding aorta, absent ductus arteriosus Diagnosis/Initial hypomineralization bones, multiple fractures, skeletal deformities Inheritance Isolated (sporadic) Diagnosis/Definite OI Age/Examination <0d Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-03-31 15:12:54 +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.