Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001739.2:c.59G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
215751.5.1 | Oman; United Arab Emirates | Hyperammonemia; Failure to thrive | Female | Yes | Patient's parents belong to the same tribe |