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GTR Home > Conditions/Phenotypes > Osteogenesis imperfecta, type 19


Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P, MBTPS2
    Summary: membrane bound transcription factor peptidase, site 2

Clinical features


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