Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004560.3:c.814C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268310.1.1 | Lebanon | Short stature; Macrocephaly; Prominent forehead; Hypertelorism; Upslanted palpebral fissure; Proptosis; Short nose; Short nasal bridge; Dental crowding; Mesomelic arm shortening; Limited pronation/supination of forearm; Brachydactyly; Syndactyly; Abnormal vertebral morphology | Female | Yes | Yes | Patient 1 |
| 268310.1.2 | Lebanon | Short stature; Macrocephaly; Prominent forehead; Hypertelorism; Upslanted palpebral fissure; Proptosis; Short nose; Short nasal bridge; Dental crowding; Mesomelic arm shortening; Brachydactyly; Syndactyly | Female | Yes | Yes | Patient 2, sister of 268310.1.1 |
| 268310.1.3 | Lebanon | Male | No | Yes | Father of 268310.1.1 and 268310.1.2 |