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 |
---|---|---|---|---|---|---|
162200.25.2 | Saudi Arabia | Optic nerve glioma; Short stature; Relative macrocephaly; Multiple cafe-au-lait spots | Male | Yes | No | Relative of 162200.25.1 |
162200.25.3 | Saudi Arabia | Optic nerve glioma; Short stature; Relative macrocephaly; Multiple cafe-au-lait spots | Female | Yes | No | Relative of 162200.25.1 |