Conditions / Genetic
osteogenesis imperfecta type 15
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13.
Signs and symptoms
- Bowing of limbs due to multiple fractures
- Recurrent fractures
- Blue sclerae
- Scoliosis
- Short stature
- Cerebellar hypoplasia
- Schizencephaly
- Hypoplasia of the pons
- Platyspondyly
- Thin ribs
Also known as: OI15; osteogenesis imperfecta type XV