Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006269.1:c.3677dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 180100.4.1 | Iraq | Rod-cone dystrophy; Optic atrophy; Attenuation of retinal blood vessels; Abnormality of retinal pigmentation | Female | Yes | Yes | Index patient |
| 180100.4.2 | Iraq | Rod-cone dystrophy | Female | Yes | Yes | Sister of 180100.4.1 |
| 180100.4.3 | Iraq | Rod-cone dystrophy | Male | Yes | Yes | Brother of 180100.4.1 |