Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005029.3:c.640_656del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 107250.1.1 | Saudi Arabia | Microphthalmia; Ocular anterior segment dysgenesis; Sclerocornea; | Female | Yes | Yes | First report of AR transmission of ASGD1 . Has an affected first cousin by history, not genotyped |
| 107250.1.2 | Saudi Arabia | ; | Female | Mother of 107250.1.1 |