Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
27INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
27INTELLECTUAL DISABILITYLymphoblast cellsAffected
393INTELLECTUAL DISABILITYBloodAffected
403INTELLECTUAL DISABILITYTissueAffected
1672INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3925INTELLECTUAL DISABILITYDNAAffected
951INTELLECTUAL DISABILITYLeukocytesAffected
953INTELLECTUAL DISABILITYLeukocytesAffected
5051INTELLECTUAL DISABILITYDNAAffected
1005INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
5013INTELLECTUAL DISABILITYDNAAffected
1030INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1173INTELLECTUAL DISABILITYBloodAffected
1188INTELLECTUAL DISABILITYBloodAffected
1224INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1239INTELLECTUAL DISABILITYBloodAffected
1670INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1669INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1476INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1619INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1619INTELLECTUAL DISABILITYLymphoblast cellsAffected
1620INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1620INTELLECTUAL DISABILITYLymphoblast cellsAffected
1621INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1621INTELLECTUAL DISABILITYLymphoblast cellsAffected
1622INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1633INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1633INTELLECTUAL DISABILITYLymphoblast cellsAffected
1476INTELLECTUAL DISABILITYLymphoblast cellsAffected
1478INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1665INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1665INTELLECTUAL DISABILITYLymphoblast cellsAffected
870INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
870INTELLECTUAL DISABILITYLymphoblast cellsAffected
1816INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1816INTELLECTUAL DISABILITYLymphoblast cellsAffected
1840INTELLECTUAL DISABILITYLymphoblast cellsAffected
1875INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1878INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1903INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1903INTELLECTUAL DISABILITYLymphoblast cellsAffected
1904INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1904INTELLECTUAL DISABILITYLymphoblast cellsAffected
1906INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1906INTELLECTUAL DISABILITYLymphoblast cellsAffected
1919INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1919INTELLECTUAL DISABILITYLymphoblast cellsAffected
1920INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1920INTELLECTUAL DISABILITYLymphoblast cellsAffected
1937INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1937INTELLECTUAL DISABILITYLymphoblast cellsAffected
5112INTELLECTUAL DISABILITYDNAAffected
2167INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2175INTELLECTUAL DISABILITYLymphoblast cellsAffected
2167INTELLECTUAL DISABILITYLymphoblast cellsAffected
1672INTELLECTUAL DISABILITYLymphoblast cellsAffected
2215INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2215INTELLECTUAL DISABILITYLymphoblast cellsAffected
2221INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2226INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1616INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
1616INTELLECTUAL DISABILITYLymphoblast cellsAffected
2221INTELLECTUAL DISABILITYLymphoblast cellsAffected
2226INTELLECTUAL DISABILITYLymphoblast cellsAffected
1504INTELLECTUAL DISABILITYFibroblastAffected
2274INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2274INTELLECTUAL DISABILITYLymphoblast cellsAffected
2341INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3928INTELLECTUAL DISABILITYDNAAffected
2387INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2388INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2412INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2413INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2413INTELLECTUAL DISABILITYLymphoblast cellsAffected
2341INTELLECTUAL DISABILITYLymphoblast cellsAffected
2412INTELLECTUAL DISABILITYLymphoblast cellsAffected
3412INTELLECTUAL DISABILITYDNAAffected
2387INTELLECTUAL DISABILITYLymphoblast cellsAffected
2388INTELLECTUAL DISABILITYLymphoblast cellsAffected
3744INTELLECTUAL DISABILITYDNAAffected
2531INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2497INTELLECTUAL DISABILITYLymphoblast cellsAffected
2531INTELLECTUAL DISABILITYLymphoblast cellsAffected
2621INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2606INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
4157INTELLECTUAL DISABILITYDNAAffected
2634INTELLECTUAL DISABILITYDNAAffected
2634INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2606INTELLECTUAL DISABILITYLymphoblast cellsAffected
2634INTELLECTUAL DISABILITYLymphoblast cellsAffected
2728INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2734INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2738INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2765INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
2734INTELLECTUAL DISABILITYLymphoblast cellsAffected
2738INTELLECTUAL DISABILITYLymphoblast cellsAffected
2728INTELLECTUAL DISABILITYLymphoblast cellsAffected
3672INTELLECTUAL DISABILITYDNAAffected
3303INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3303INTELLECTUAL DISABILITYLymphoblast cellsAffected
3381INTELLECTUAL DISABILITYLeukocytesAffected
5016INTELLECTUAL DISABILITYDNAAffected
2765INTELLECTUAL DISABILITYLymphoblast cellsAffected
3514INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3606INTELLECTUAL DISABILITYDNAAffected
3613INTELLECTUAL DISABILITYDNAAffected
3614INTELLECTUAL DISABILITYDNAAffected
3615INTELLECTUAL DISABILITYDNAAffected
3635INTELLECTUAL DISABILITYDNAAffected
3562INTELLECTUAL DISABILITYDNAAffected
3444INTELLECTUAL DISABILITYLymphoblast cellsAffected
3445INTELLECTUAL DISABILITYLymphoblast cellsAffected
3444INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3445INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3678INTELLECTUAL DISABILITYDNAAffected
3682INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3412INTELLECTUAL DISABILITYLeukocytesAffected
3689INTELLECTUAL DISABILITYLymphoblast cellsAffected
3514INTELLECTUAL DISABILITYLymphoblast cellsAffected
3682INTELLECTUAL DISABILITYLymphoblast cellsAffected
3700INTELLECTUAL DISABILITYDNAAffected
3701INTELLECTUAL DISABILITYDNAAffected
3702INTELLECTUAL DISABILITYDNAAffected
3643INTELLECTUAL DISABILITYDNAAffected
3708INTELLECTUAL DISABILITYDNAAffected
3711INTELLECTUAL DISABILITYDNAAffected
3713INTELLECTUAL DISABILITYDNAAffected
3734INTELLECTUAL DISABILITYDNAAffected
3746INTELLECTUAL DISABILITYDNAAffected
3754INTELLECTUAL DISABILITYDNAAffected
6441INTELLECTUAL DISABILITYDNAAffected
3689INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3758INTELLECTUAL DISABILITYDNAAffected
3762INTELLECTUAL DISABILITYDNAAffected
3769INTELLECTUAL DISABILITYDNAAffected
3771INTELLECTUAL DISABILITYDNAAffected
3774INTELLECTUAL DISABILITYDNAAffected
3682INTELLECTUAL DISABILITYDNAAffected
3782INTELLECTUAL DISABILITYDNAAffected
3794INTELLECTUAL DISABILITYDNAAffected
3795INTELLECTUAL DISABILITYDNAAffected
3801INTELLECTUAL DISABILITYDNAAffected
3816INTELLECTUAL DISABILITYDNAAffected
3857INTELLECTUAL DISABILITYDNAAffected
3879INTELLECTUAL DISABILITYDNAAffected
3889INTELLECTUAL DISABILITYDNAAffected
3900INTELLECTUAL DISABILITYDNAAffected
3901INTELLECTUAL DISABILITYDNAAffected
3911INTELLECTUAL DISABILITYDNAAffected
3914INTELLECTUAL DISABILITYDNAAffected
3920INTELLECTUAL DISABILITYDNAAffected
3941INTELLECTUAL DISABILITYDNAAffected
3945INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
3976INTELLECTUAL DISABILITYDNAAffected
3997INTELLECTUAL DISABILITYDNAAffected
4231INTELLECTUAL DISABILITYDNAAffected
4036INTELLECTUAL DISABILITYDNAAffected
4042INTELLECTUAL DISABILITYDNAAffected
4051INTELLECTUAL DISABILITYDNAAffected
4107INTELLECTUAL DISABILITYDNAAffected
4142INTELLECTUAL DISABILITYDNAAffected
4143INTELLECTUAL DISABILITYDNAAffected
3945INTELLECTUAL DISABILITYLymphoblast cellsAffected
3746INTELLECTUAL DISABILITYFibroblastAffected
4171INTELLECTUAL DISABILITYDNANot affected
4207INTELLECTUAL DISABILITYDNAAffected
4219INTELLECTUAL DISABILITYDNAAffected
4315INTELLECTUAL DISABILITYDNAAffected
4316INTELLECTUAL DISABILITYDNAAffected
4346INTELLECTUAL DISABILITYDNAAffected
4378INTELLECTUAL DISABILITYDNAAffected
4555INTELLECTUAL DISABILITYDNANot affected
4556INTELLECTUAL DISABILITYDNAAffected
4592INTELLECTUAL DISABILITYDNAAffected
4451INTELLECTUAL DISABILITYT-Lymphocytes + IL2Affected
4616INTELLECTUAL DISABILITYDNAAffected
5052INTELLECTUAL DISABILITYDNAAffected
5112INTELLECTUAL DISABILITYLymphoblast cellsAffected
5256INTELLECTUAL DISABILITYDNAAffected
5237INTELLECTUAL DISABILITYDNAAffected
5237INTELLECTUAL DISABILITYFibroblastAffected
5237INTELLECTUAL DISABILITYLymphoblast cellsAffected
4067INTELLECTUAL DISABILITYDNAAffected
4067INTELLECTUAL DISABILITYLymphoblast cellsAffected
5838INTELLECTUAL DISABILITYLeukocytesAffected
6323INTELLECTUAL DISABILITYDNAAffected
6341INTELLECTUAL DISABILITYDNAAffected
5838INTELLECTUAL DISABILITYBloodAffected
6514INTELLECTUAL DISABILITYDNAAffected
6547INTELLECTUAL DISABILITYDNAAffected
6548INTELLECTUAL DISABILITYDNAAffected
7348INTELLECTUAL DISABILITYBloodAffected
5669INTELLECTUAL DISABILITYDNAAffected
6744INTELLECTUAL DISABILITYDNAAffected
6754INTELLECTUAL DISABILITYLeukocytesAffected
7227INTELLECTUAL DISABILITYBloodAffected
6754INTELLECTUAL DISABILITYBloodAffected
8220INTELLECTUAL DISABILITYDNAAffected
7408INTELLECTUAL DISABILITYBloodAffected
5838INTELLECTUAL DISABILITYLymphoblast cellsAffected
5051INTELLECTUAL DISABILITYLymphoblast cellsAffected
5052INTELLECTUAL DISABILITYLymphoblast cellsAffected
7445INTELLECTUAL DISABILITYDNAAffected
7445INTELLECTUAL DISABILITYLeukocytesAffected
7460INTELLECTUAL DISABILITYBloodAffected
5682INTELLECTUAL DISABILITYBloodAffected
7797INTELLECTUAL DISABILITYBloodAffected
4877INTELLECTUAL DISABILITYDNAAffected
4878INTELLECTUAL DISABILITYDNAAffected
8882INTELLECTUAL DISABILITYDNAAffected