4A01.32
Immuno-osseous dysplasia
Displasia imuno-óssea
CategoryDefinition
This is an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.
Index Terms
Immuno-osseous dysplasiaSchimke immuno-osseous dysplasiaSpondyloepiphyseal dysplasia - nephrotic syndromeSchimke syndrome