Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000214.2:c.1388_1389insT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 118450.1.2 | Lebanon | Mild global developmental delay ; Elevated hepatic transaminase ; Broad forehead ; Pointed chin ; Long nose ; Bulbous nose | Female | Yes | Sister of 118450.1.1 | |
| 118450.1.3 | Lebanon | Abnormal facial shape; Rod-cone dystrophy | Male | Yes | Father of 118450.1.1 |