Male
Yes
No
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 |
---|---|---|---|---|---|---|
261640.14.2 | Saudi Arabia | Hyperphenylalaninemia; Failure to thrive; Global developmental delay; Hypopigmentation of hair; Hypotonia; Microcephaly; Eczema; Ptosis | Female | Yes | Yes |