Global Variome shared LOVD

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

Phenotype #0000227642 Individual ID 00300334 Associated disease OI Phenotype details height 101cm (<3rd), weight 16kg (<3rd); congenital joint contractures ; 1y-first fracture; 4 fractures; no scoliosis ; no clubfeet ; camptodactyly ; no pterygia ; blue–gray sclera; no dentinogenesis imperfecta ; no hearing impairment ; Wormian bones Diagnosis/Initial Bruck syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite BRKS2 Age/Examination 05y (5 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 2020-05-01 11:34:44 +02:00 (CEST) Date last edited 2020-05-01 11:58:06 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.