Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003982.4:c.1185_1188del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 222700.2.1 | Tunisia | Small for gestational age; Hyperammonemia; Oroticaciduria; Hyperlysinuria; Elevated sweat chloride | Male | Yes | Yes |