Male
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 |
|---|---|---|---|---|---|---|
| 613320.2.2 | Lebanon | Neonatal hypotonia; Rhizomelic leg shortening; Cupped ribs; Platyspondyly; Squared iliac bones; Delayed epiphyseal ossification; Cardiomegaly; | Female | Yes | Yes | Sibling of 613320.2.1 |