Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_030957.3:c.709C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277600.1.1 | Lebanon | Short stature; Brachydactyly; Microspherophakia; High myopia; Glaucoma; Pulmonic stenosis | Male | Yes | Yes | Sibling of 277600.1.2; First degree cousin of 277600.1.3 |
| 277600.1.3 | Lebanon | Short stature; Brachydactyly; Microspherophakia; High myopia; Glaucoma; | Male | Yes | Yes | First degree cousin of 277600.1.1 and 277600.1.2 |
| 277600.1.4 | Lebanon | Short stature; Brachydactyly; Microspherophakia; High myopia; Glaucoma; | Female | Yes | Yes | Sibling of 277600.1.5 and 277600.1.6 |
| 277600.1.5 | Lebanon | Short stature; Brachydactyly; Microspherophakia; High myopia; Glaucoma; | Male | Yes | Yes | Sibling of 277600.1.4 and 277600.1.6 |
| 277600.1.6 | Lebanon | Short stature; Brachydactyly; Microspherophakia; High myopia; Glaucoma; | Female | Yes | Yes | Sibling of 277600.1.4 and 277600.1.5 |