Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152281.3:c.658G>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231070.9.2 | Saudi Arabia | Cutis laxa; Joint laxity; Abnormal heart morphology; Kyphoscoliosis; Osteoporosis | Male | Yes | Yes | Relative of 231070.9.1 |