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osteogenesis imperfecta type X (type 10)
Pathology:
- connective tissue disorder
- bone fragility
- low bone mass
Genetics:
- associated with defects in SERPINH1 are the cause of osteogenesis imperfecta type 10
Clinical manifestations:
- bowing of limbs due to multiple fractures
- short limb dwarfism
- blue sclerae
General
osteogenesis imperfecta; osteopsathyrosis; fragilitas ossium; Lobstein's disease (OI)
Database Correlations
OMIM 613848
References
OMIM :accession 613848