Catalog ID | Description | Sex | Age | Race | Affected | Family Member | Relationship to Proband | Cell Type | Family |
GM08714 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | Female | 1 YR | White | Yes | 1 | proband | B-Lymphocyte | 2081 |
GM08728 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | Female | 26 YR | White | No | 2 | mother | B-Lymphocyte | 2081 |
GM08729 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | Male | 30 YR | White | No | 3 | father | B-Lymphocyte | 2081 |
GM08747 | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | Female | 1 YR | White | Yes | 1 | proband | Fibroblast | 2081 |