| Catalog ID | Diagnosis | Cell Type | Race | Age At Sampling | Sex | Affected | Family |
| GM29342 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 2 YR | Male | Yes | NIGMS00071 |
| GM28472 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 3 YR | Female | Yes | NIGMS00002 |
| GM29336 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | B-Lymphocyte | Caucasian | 4 YR | Female | No | NIGMS00071 |
| GM29095 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 7 YR | Female | Yes | |
| GM29339 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | B-Lymphocyte | Caucasian | 9 YR | Female | No | NIGMS00071 |
| GM29345 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | Caucasian | 10 YR | Female | Yes | |
| GM28473 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 31 YR | Female | No | NIGMS00002 |
| GM28474 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 31 YR | Male | No | NIGMS00002 |
| GM29340 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | B-Lymphocyte | Caucasian | 42 YR | Female | No | NIGMS00071 |
| GM29337 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | B-Lymphocyte | White | 52 YR | Male | No | NIGMS00071 |
| GM29405 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Fibroblast | White | 52 YR | Male | No | NIGMS00071 |