Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000875.5:c.119G>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 270450.1.1 | Lebanon | Perimembranous ventricular septal defect; Delayed skeletal maturation; Acanthosis nigricans; Scoliosis; Truncal obesity; High pitched voice; Triangular face; Abnormality of the palpebral fissures; Esotropia; Highly arched eyebrow; Low-set ears; High palate; Microretrognathia; Webbed neck; Clinodactyly | Female | Yes | Yes | Proband |
| 270450.1.3 | Lebanon | Female | No | Yes | Mother of 270450.1.1 |