Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000428.3:c.4313G>A | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
251750.3.1 | Saudi Arabia | Lens subluxation; Megalocornea; Glaucoma | Male | Yes | Yes | Patient from 'family 3' in the publication |
251750.3.2 | Saudi Arabia | Megalocornea; Glaucoma; Microspherophakia; Iridodonesis | Male | Yes | Yes | Brother of 251750.3.1 |
251750.3.4 | Saudi Arabia | Female | Mother of 251750.3.1 | |||
251750.3.5 | Saudi Arabia | Megalocornea; Glaucoma; Iridodonesis; Uveal ectropion; Ectopia lentis; Abnormality of the optic nerve | Female | Yes | Yes | Paternal aunt of 251750.3.1 |