Global Variome shared LOVD

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

Phenotype #0000227099 Individual ID 00299782 Associated disease OI1 Phenotype details mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659) Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal dominant Diagnosis/Definite OI Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yousuke Higuchi Database submission license No license selected Created by Yousuke Higuchi Date created 2020-04-21 11:10:06 +02:00 (CEST) Date last edited 2021-05-25 19:41:09 +02:00 (CEST)

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