Global Variome shared LOVD

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

Phenotype #0000227081 Individual ID 00299768 Associated disease OI1 Phenotype details mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659) Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal dominant Diagnosis/Definite OI Age/Examination 4y (4 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 08:57:40 +02:00 (CEST) Date last edited 2021-05-25 19:41:09 +02:00 (CEST)

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