Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001080477.4:c.2083dup | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615145.2.1 | Saudi Arabia | Visual impairment; Microcornea; Microphthalmia; Iris coloboma; Macular coloboma | Male | Yes | Yes | 'Patient 1' in the publication |
615145.2.3 | Saudi Arabia | Male | Father of 615145.2.1 | |||
615145.2.4 | Saudi Arabia | Female | Mother of 615145.2.1 |