| Catalog ID | Diagnosis | Cell Type | Race | Age At Sampling | Sex | Affected | Family |
| GM16582 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Male | Yes | |
| GM16584 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Female | Yes | |
| GM16586 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Male | Yes | |
| GM50126 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Female | | |
| GM50150 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Female | | |
| GM18311 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | Black/African American | 8 MO | Female | Yes | |
| GM07985 | HOLOPROSENCEPHALY 4; HPE4 | Fibroblast | Black/African American | 28 FW | Female | | |
| GM50121 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | 32 FW | Male | | |