Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004183.4:c.1403C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
611809.3.1 | Lebanon | Vitelliform-like macular lesions; Exudative retinal detachment | Female | Yes | No | Proband |
611809.3.3 | Lebanon | Male | Father of 611809.3.1 | |||
611809.3.4 | Lebanon | Female | Mother of 611809.3.1 |