Male
No
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_207352.3:c.1372G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
210370.1.1 | Lebanon | Nyctalopia; Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Scotoma; Retinal crystals | Female | Yes | No | F1:II-1 |
210370.1.2 | Lebanon | Nyctalopia; Choriocapillaris atrophy; Retinal pigment epithelial atrophy; Paracentral Scotoma; Retinal crystals | Female | Yes | No | Sister of 210370.1.1 (F1:II-2) |
210370.1.4 | Lebanon | Female | No | No | Mother of 210370.1.1 |