Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018418.5:c.322C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
604232.1.1 | Saudi Arabia | Visual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogram | Male | Yes | Yes | |
604232.1.2 | Saudi Arabia | Visual impairment; Abnormal visual fixation; Nystagmus; Hyperopic astigmatism; Undetectable electroretinogram | Male | Yes | Yes | Brother of 604232.1.1 |