Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_030630.3:c.2318dup | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619983.1.1 | Saudi Arabia | Failure to thrive; Growth delay; Short stature; Intellectual disability; Absent speech; Seizure; Hypotonia; Panhypopituitarism; Agenesis of corpus callosum; Small pituitary gland; Synophrys; Hypertelorism; Long eyelashes; Death in childhood | Male | Yes | Yes | Patient from 'family 3' in Schänzer et al. 2021 |
| 619983.1.2 | Saudi Arabia | Male | Father of 619983.1.1 |