| Catalog ID | Description | Percent Normal Activity | Specimen Assayed | Remark |
| GM16678 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 | 19.2 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM16728 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM16776 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |