Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_177924.5:c.1096A>C | 1 | |||
| NM_177924.5:c.505T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228000.2.2 | United Arab Emirates | Male | Yes | Father of 228000.2.1 | ||
| 228000.2.3 | United Arab Emirates | Female | Yes | Mother of 228000.2.1 |