| Catalog ID | Diagnosis | Cell Type | Race | Age | Sex | Affected | Family |
| GM02365 | COFFIN-LOWRY SYNDROME; CLS | Fibroblast | White | 14 YR | Male | Yes | |
| GM03317 | COFFIN-LOWRY SYNDROME; CLS | B-Lymphocyte | White | 8 YR | Male | Yes | 510 |
| GM03318 | COFFIN-LOWRY SYNDROME; CLS | Fibroblast | White | 8 YR | Male | Yes | 510 |
| GM03913 | ROBERTS SYNDROME; RBS | Fibroblast | White | 2 YR | Male | Yes | |
| GM09888 | TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS) | B-Lymphocyte | White | 8 YR | Female | Yes | |
| GM13441 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | Fibroblast | White | 14 YR | Male | Yes | 3003 |
| GM16549 | SMITH-LEMLI-OPITZ SYNDROME; SLOS | Fibroblast | | 1 DA | Male | Yes | |
| GM17934 | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | B-Lymphocyte | Hispanic/Latino | 7 YR | Male | Yes | |
| GM18180 | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | B-Lymphocyte | Hispanic/Latino | 3 YR | Female | Yes | 3003 |
| GM18379 | VARADI-PAPP SYNDROME | B-Lymphocyte | White | 11 YR | Female | Yes | |
| GM20466 | ROBERTS SYNDROME; RBS | B-Lymphocyte | White | 34 YR | Female | Yes | 710 |
| GM20467 | ROBERTS SYNDROME; RBS | Fibroblast | White | 33 YR | Female | Yes | 710 |
| GM21545 | OTOPALATODIGITAL SYNDROME, TYPE 1; OPD1 | B-Lymphocyte | Black/African American | 42 YR | Female | Yes | |
| GM21872 | ROBERTS SYNDROME; RBS | Fibroblast | | 25 FW | Female | Yes | 2737 |
| GM21873 | ROBERTS SYNDROME; RBS | Amniotic fluid-derived cell line | White | 20 FW | Female | Yes | |