Global Variome shared LOVD

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Phenotype #0000227635 Individual ID 00300324 Associated disease OI Phenotype details onset fractures 17 months; two fractures, one in each tibia; no contractures; no pterygium; normal chest; very mild scoliosis; white sclera; no oro-dental anomalies; no hearing impairment; pes valgus; slight bowing legs (tibia vara); normal gross motor development; weight normal range, length normal range, OFC normal range; no Wormian bones skull; decreased bone density, more severe in limbs, mild bowing tibias, thoracic-lumbar scoliosis; 12y-osteoporosis lumbar spine (Z-score: -2.45) Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite OI Age/Examination - Age/Onset 17m Phenotype/Onset fractures 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 10:04:19 +02:00 (CEST) Date last edited N/A

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