Female
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 |
---|---|---|---|---|---|---|
261640.21.2 | Saudi Arabia | Hyperphenylalaninemia; Neonatal hypotonia; Oculogyric crisis; Eczema | Male | Yes | Yes | |
261640.21.3 | Saudi Arabia | Hyperphenylalaninemia; Neonatal hypotonia; Oculogyric crisis; Eczema | Male | Yes | Yes |