Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022356.4:c.2056-1G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610915.5.2 | Oman | Hypertelorism; Microganathia; Small anterior fontanelle; Joint hypermobility | Male | Yes | Yes | Relative of 610915.5.1 |
| 610915.5.3 | Oman | Hypertelorism; Microganathia; Small anterior fontanelle; Joint hypermobility | Female | Yes | Yes | Relative of 610915.5.1 |