Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000277.3:c.168+5G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261600.13.1 | Lebanon | Hyperphenylalaninemia; Psychomotor retardation; Seizure; ; | Female | Yes | No |