Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022482.5:c.1054dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617662.2.1 | Saudi Arabia | Short stature; Joint hypermobility; Abnormal sternum morphology; Scoliosis; High myopia; Iris coloboma; Chorioretinal coloboma; Retinal detachment; Hearing impairment | Male | Yes | Yes | Patient from 'family 2' in the publication |
| 617662.2.2 | Saudi Arabia | Short stature; Joint hypermobility; Abnormal sternum morphology; High myopia; Iris coloboma; Chorioretinal coloboma; Retinal detachment; Bilateral talipes equinovarus | Male | Yes | Yes | Brother of 617662.2.1 |