Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_020366.3:c.1107del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613826.3.2 | Saudi Arabia | Reduced visual acuity | Male | Yes | Yes | Brother of 613826.3.1 |