Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003060.3:c.760C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212140.3.1 | Lebanon | Premature birth; Cardiomegaly; Bronchitis; Decreased plasma carnitine | Male | Yes | Yes | Patient 'C IV-4' in the publication |
| 212140.3.3 | Lebanon | Male | No | No | Father of 212140.3.1 | |
| 212140.3.4 | Lebanon | Female | No | No | Mother of 212140.3.1 | |
| 212140.3.5 | Lebanon | Female | Yes | Yes | Sister of 212140.3.1 | |
| 212140.3.6 | Lebanon | Female | Yes | Yes | Sister of 212140.3.1 | |
| 212140.3.7 | Lebanon | Female | Yes | Yes | Sister of 212140.3.1 |