Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
2726SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDT-Lymphocytes + IL2Not affected
2737SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDT-Lymphocytes + IL2Affected
2727SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDLymphoblast cellsAffected
2726SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDLymphoblast cellsNot affected
2737SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDLymphoblast cellsAffected
2737SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDDNAAffected
2727SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDDNAAffected
2726SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDDNANot affected
8854SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDDNAAffected
8877SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDDNANot affected
8877SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDBloodNot affected
2727SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDFibroblastAffected
2737SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDFibroblastAffected
2726SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKEDFibroblastNot affected