Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000317.3:c.155A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261640.14.1 | Saudi Arabia | Hyperphenylalaninemia; Neonatal seizure; Neonatal hypotonia; Failure to thrive; Global developmental delay; Hyperreflexia; Dystonia; Insomnia; Enlarged cisterna magna; Hypopigmentation of hair | Male | Yes | No |