Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032040.4:c.803_807delinsT | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614205.1.1 | Saudi Arabia | Intrauterine growth retardation; Neonatal respiratory distress; Proportionate short stature; Hyperlordosis; Abnormal facial shape; Abnormal form of the vertebral bodies | Female | Yes | Yes | |
| 614205.1.2 | Saudi Arabia | Intrauterine growth retardation; Proportionate short stature; Abnormal facial shape; Heart murmur; Mitral regurgitation | Female | Yes | Yes | Sibling of 614205.1.1 |