Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000322.4:c.659G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
608133.3 | United Arab Emirates | Abnormal macular morphology; Irregular central macular autofluorescence; Myopia | Female | Mother of 608133.2. Refused ERG |