Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_201253.2:c.1345C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
6613835.3.1 | Lebanon | Bull's eye maculopathy; Congenital blindness; | Male | Yes | No | |
6613835.3.2 | Lebanon | Female | Mother of 6613835.3.1 |