Catalog ID | Description | Sex | Age | Race | Affected | Family Member | Relationship to Proband | Cell Type | Family |
GM28028 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 5 YR | White | Yes | 3 | brother | B-Lymphocyte | 3520 |
GM28047 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 6 YR | White | Yes | 1 | proband | B-Lymphocyte | 3520 |
GM28048 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Female | 41 YR | White | Yes | 2 | mother | B-Lymphocyte | 3520 |
GM28061 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 13 YR | White | Yes | 4 | brother | B-Lymphocyte | 3520 |
GM28755 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 | Male | 42 YR | White | No | 5 | father | B-Lymphocyte | 3520 |