Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003060.3:c.538C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212140.2.1 | Lebanon | Congestive heart failure; Pneumonia; Failure to thrive; Decreased plasma carnitine | Female | Yes | No | Patient 'B II-2' in the publication |
| 212140.2.2 | Lebanon | Male | No | No | Father of 212140.2.1 | |
| 212140.2.3 | Lebanon | Female | No | No | Mother of 212140.2.1 |