Global Variome shared LOVD

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

Phenotype #0000227650 Individual ID 00300342 Associated disease OI Phenotype details no contractures at birth; no clubfeet; no fractures at birth, 2y-stress fracture left tibia, >2y 5 fractures; no bowed long bones; osteoporosis, no osteopenia; white sclera, normal teeth; no scoliosis; no dysmorphology; 17y-length 174.5cm (z−0.1), weight 83.4kg; motor development walk without support; severe pain Diagnosis/Initial moderate osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 17y (17 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 12:31:01 +02:00 (CEST) Date last edited N/A

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