Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006269.2:c.4552A>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
180100.6.1 | Saudi Arabia | Rod-cone dystrophy; Attenuation of retinal blood vessels; Optic disc pallor; Abnormality of retinal pigmentation; Macular atrophy | Male | Yes | Yes | Index patient |
180100.6.2 | Saudi Arabia | Rod-cone dystrophy | Female | Yes | Yes | Sister of 180100.6.1 |
180100.6.4 | Saudi Arabia | Rod-cone dystrophy | Male | Yes | Yes | Brother of 180100.6.1 |