Female
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 |
---|---|---|---|---|---|---|
261600.13.2 | Lebanon | Hyperphenylalaninemia; Psychomotor retardation; Nausea; Vomiting; ; | Male | Yes | No | Sibling of 261600.13.1 |