Male
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004183.4:c.830C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
611809.2.1 | Lebanon | Vitelliform-like macular lesions; Exudative retinal detachment | Female | No | Yes | |
611809.2.3 | Lebanon | Female | No | Mother of 611809.2.1 |