Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000317.3:c.400G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
261640.15.1 | Oman | Hyperphenylalaninemia; Lethargy; Failure to thrive; Delayed speech and language development; Intellectual disability, mild; Hyperreflexia | Male | Yes | Yes |