Global Variome shared LOVD

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

Phenotype #0000227064 Individual ID 00299751 Associated disease OI1 Phenotype details mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) Diagnosis/Initial osteogenesis imperfecta Inheritance Isolated (sporadic) Diagnosis/Definite OI Age/Examination 11y (11 years) Age/Diagnosis 11y Age/Onset - Phenotype/Onset - Protein - Owner name Yousuke Higuchi Database submission license No license selected Created by Yousuke Higuchi Date created 2020-04-21 04:59:33 +02:00 (CEST) Date last edited 2021-05-25 19:41:09 +02:00 (CEST)

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