Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001609.3:c.443C>T | 1 | |||
| NM_001609.3:c.1159G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610006.3.1 | Lebanon | Male | Yes | Yes | Increased C5 acylcarnitine in neonatal screening |