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 |
---|---|---|---|---|---|---|
617662.2.2 | 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 |
617662.2.3 | Saudi Arabia | Short stature; Joint hypermobility; Abnormal sternum morphology; High myopia | Male | Yes | Yes | Brother of 617662.2.1 |