| Catalog ID | Diagnosis | Cell Type | Race | Age | Sex | Affected | Family |
| GM03884 | KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | Fibroblast | White | 14 YR | Female | Yes | |
| GM05365 | CILIARY DYSKINESIA, PRIMARY, 1; CILD1 | B-Lymphocyte | White | 14 YR | Male | Yes | |
| GM07216 | HOLOPROSENCEPHALY 3; HPE3 | Fibroblast | White | 25 FW | Female | | |
| GM07985 | HOLOPROSENCEPHALY 4; HPE4 | Fibroblast | Black/African American | 28 FW | Female | | |
| GM10064 | HOLOPROSENCEPHALY 3; HPE3 | Fibroblast | White | 1 DA | Female | | 1158 |
| GM10709 | HOLOPROSENCEPHALY | Fibroblast | Asian | 1 DA | Male | Yes | |
| GM16582 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Male | Yes | |
| GM16584 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Female | Yes | |
| GM16586 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Male | Yes | |
| GM18311 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | Black/African American | 8 MO | Female | Yes | |
| GM18378 | HOLOPROSENCEPHALY | B-Lymphocyte | Other | 4 MO | Female | Yes | |
| GM21496 | ROKITANSKY-KUSTER-HAUSER SYNDROME | B-Lymphocyte | East Indian | 12 YR | Male | Yes | 2622 |
| GM21546 | HOLOPROSENCEPHALY | B-Lymphocyte | | 23 MO | Male | Yes | |
| GM50121 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | 32 FW | Male | | |
| GM50150 | HOLOPROSENCEPHALY 4; HPE4 | B-Lymphocyte | | | Female | | |