Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001042492.3:c.775del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 162200.25.1 | Saudi Arabia | Optic nerve glioma; Short stature; Relative macrocephaly; Multiple cafe-au-lait spots | Female | Yes | No | |
| 162200.25.2 | Saudi Arabia | Optic nerve glioma; Short stature; Relative macrocephaly; Multiple cafe-au-lait spots | Male | Yes | No | Relative of 162200.25.1 |