Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001042492.2:c.1846del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 162200.9.1 | United Arab Emirates | Cafe-au-lait spot | Female | Yes | Yes | Proband |
| 162200.9.2 | United Arab Emirates | Cafe-au-lait spot | Female | Yes | Yes | Sister of 162200.9.1 |