Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016069.10:c.226A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613320.1.2 | Lebanon | Global developmental delay; Abnormal facial shape; Short ribs; Cupped ribs; Severe platyspondyly; Squared iliac bones; Hypoplastic ischia; Broad femoral metaphyses; | Male | Yes | Yes | Sibling of 613320.1.1 |