Global Variome shared LOVD

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

Phenotype #0000352072 Individual ID 00466709 Associated disease OI Phenotype details see paper; ..., newborn bowing humeri/radii/tibiae, fractures femora/ribs/clavicles, generalized osteopenia; childhood numerous fractures upper/lower extremity long bones; white sclerae, kyphoscoliosis, anterior vertebral wedging, short stature; no ichthyosis follicularis, no alopecia, no photophobia, no intellectual disability, no seizures Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, X-linked recessive Diagnosis/Definite OI19 Age/Examination 26y (26 years) 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 2025-09-23 18:48:04 +02:00 (CEST) Date last edited 2025-09-23 18:50:32 +02:00 (CEST)

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