Global Variome shared LOVD

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

Phenotype #0000244916 Individual ID 00326448 Associated disease OI Phenotype details see paper; ..., 1y5m-deceased (sepsis); birth 39w, weight 2,135 g (-2.35 SD), length 45 cm (−1.93 SD); prenatal fractures; bluish sclera; no dentinogenesis imperfecta; no hypermobility joints; patent foramen ovale with small left to right shunt; no hearing impairment; old fractures of extremities, no vertebral/thoracic cage fractures; retarded gross motor function Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite OI20 Age/Examination 1y5m (1 year, 5 months) 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 2021-01-12 19:02:52 +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.