Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016941.4:c.599_603dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277300.3 | Arab | Short stature; Scoliosis; Short neck; Skeletal dysplasia; Pectus excavatum; Failure to thrive | Female | Yes |