Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014780.5:c.2592T>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 273750.6 | Saudi Arabia | Short stature; Abnormal heart morphology; Osteopenia; Midface retrusion | Female | Yes | ||
| 273750.7 | Saudi Arabia | Short stature; Abnormal facial shape; Failure to thrive | Female | No | ||
| 273750.9 | Saudi Arabia | Failure to thrive; Microcephaly; Postnatal growth retardation; Motor delay; Delayed speech and language development; Hypotonia | Male | No | Yes |