Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000277.3:c.1055G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261600.2.2 | Lebanon | Hyperphenylalaninemia; | Male | Yes | Yes | Sibling of 261600.2.1. Diagnosed through NBS. |