Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000317.3:c.238A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261640.21.1 | Saudi Arabia | Hyperphenylalaninemia; Neonatal hypotonia; Oculogyric crisis; Delayed speech and language development; Hyperreflexia; Ataxia | Female | Yes | Yes | |
| 261640.21.2 | Saudi Arabia | Hyperphenylalaninemia; Neonatal hypotonia; Oculogyric crisis; Eczema | Male | Yes | Yes |