Female
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 |
|---|---|---|---|---|---|---|
| 118450.1.1 | Lebanon | Hepatic failure; Mild global developmental delay; Peripheral pulmonary artery stenosis; Failure to thrive; Broad forehead; Pointed chin; Long nose; Bulbous nose | Male | Yes | ||
| 118450.1.3 | Lebanon | Abnormal facial shape; Rod-cone dystrophy | Male | Yes | Father of 118450.1.1 |