Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001042492.3:c.5529dup | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 162200.23.1 | Saudi Arabia | Multiple cafe-au-lait spots; Axillary freckling | Male | Yes | Patient's parents are from the same region. | |
| 162200.23.2 | Saudi Arabia | Multiple cafe-au-lait spots; Axillary freckling | Male | Yes | Relative of 162200.23.1; patient's parents are from the same region. |