Unknown
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 |
|---|---|---|---|---|---|---|
| 222700.3.1 | Tunisia | Abnormal macrophage count; Abnormal lymphocyte count; Vomiting; Diarrhea; Growth delay; Hyperammonemia | Female | Yes | Yes | Proband and sibling of 222700.3.2 |