Human genes for Schimke immuno-osseous dysplasia
Schimke immuno-osseous dysplasia [DOID:0060490]
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has material basis in mutations in the SMARCAL1 gene.
Synonyms: Schimke immuno-osseous dysplasia, DOID:0060490, Schimke immunoosseous dysplasia, Schimke immuno-osseous dysplasias, Schimke syndrome ...