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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 242900
References
OMIM :accession 242900