Schimke immuno-osseous dysplasia

Genetics

• asociated with defects in SMARCAL1

Clinical manifestations

• spondyloepiphyseal dysplasia
  • renal dysfunction
  • T-cell immunodeficiency
  • ~ 1/2 of patients also exhibit hyperthyroidism,
  • ~ 1/2 of patients also exhibit episodic cerebral ischemia

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/242900