Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
1675NEURAL TUBE DEFECTST-Lymphocytes + IL2Affected
1933NEURAL TUBE DEFECTSFibroblastAffected
252NEURAL TUBE DEFECTSFibroblastAffected
252NEURAL TUBE DEFECTSTissueAffected
283NEURAL TUBE DEFECTSFibroblastAffected
378NEURAL TUBE DEFECTSAmniotic cellAffected
1288NEURAL TUBE DEFECTSFibroblastAffected
1385NEURAL TUBE DEFECTSAmniotic cellAffected
1385NEURAL TUBE DEFECTSFibroblastAffected
252NEURAL TUBE DEFECTSTissueAffected
1841NEURAL TUBE DEFECTST-Lymphocytes + IL2Affected
1841NEURAL TUBE DEFECTSLymphoblast cellsAffected
1933NEURAL TUBE DEFECTST-Lymphocytes + IL2Affected
1933NEURAL TUBE DEFECTSLymphoblast cellsAffected
3764NEURAL TUBE DEFECTSDNAAffected
4354NEURAL TUBE DEFECTST-Lymphocytes + IL2Affected