Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014780.5:c.2863-1G>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 273750.4.1 | Saudi Arabia | Joint laxity; Neonatal respiratory distress; Severe short stature; Relative macrocephaly; Abnormal facial shape; Hyperlordosis; Large iliac wing | Female | Yes | Yes | |
| 273750.4.3 | Saudi Arabia | Abnormal facial shape; Severe postnatal growth retardation; Short stature; Hyperlordosis; Abnormal form of the vertebral bodies | Female | Yes | Yes | Cousin of 273750.4.1 |
| 273750.4.4 | Saudi Arabia | Abnormal facial shape; Severe postnatal growth retardation; Short stature; Hyperlordosis; Abnormal form of the vertebral bodies | Female | Yes | Yes | Sibling of 273750.4.3 |