Global Variome shared LOVD

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

Phenotype #0000356944 Individual ID 00472136 Associated disease OI Phenotype details see paper; ..., 18wg-short long bones; neonatal blue-gray sclerae, osteopenia, Wormian bones, deformities long bones, no dysmorphic craniofacial features; 13m-coronal sutures patent, anterior fontanelle enlarged Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2026-01-10 10:42:06 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.