Family NIGMS00002 Members
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Records Return:
(3)
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Catalog ID | Description | Sex | Age | Race | Affected | Family Member | Relationship to Proband | Cell Type | Family |
GM28472 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Female | 3 YR | White | Yes | 1 | proband | Fibroblast | NIGMS00002 |
GM28473 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Female | 31 YR | White | No | 2 | mother | Fibroblast | NIGMS00002 |
GM28474 | MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D | Male | 31 YR | White | No | 3 | father | Fibroblast | NIGMS00002 |
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