Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152564.4:c.11251del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.6.1 | Lebanon | Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly; Childhood-onset truncal obesity | Male | Yes | Yes | |
| 216550.6.2 | Lebanon | Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly | Female | Yes | Yes | Sibling of 216550.6.1 |
| 216550.6.4 | Lebanon | Male | Father of 216550.6.1 |