Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_030630.3:c.388C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619983.2.1 | Tunisia | Absent speech; Small pituitary gland; Synophrys; Motor delay; Spasticity; Abnormality of the pituitary gland | Male | Yes | Patient from 'family 2' in the publication | |
| 619983.2.2 | Tunisia | Male | Father of 619983.2.1 | |||
| 619983.2.4 | Tunisia | Male | Yes | Brother of 619983.2.1 |