Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012200.4:c.830G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245600.2.1 | United Arab Emirates | Joint laxity; Multiple joint dislocation; Short stature; Brachycephaly; Abnormally large globe; Downslanted palpebral fissures; Narrow mouth; Low-set ears; Microtia; Micrognathia; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | Male | Yes | Yes | |
| 245600.2.3 | United Arab Emirates | Joint laxity; Multiple joint dislocation; Short stature; Bicuspid aortic valve; Mitral valve prolapse; Atrial septal defect; Aortic root aneurysm; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Downslanted palpebral fissures; Microtia; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | Male | Yes | Yes | Brother of 245600.2.1 |
| 245600.2.4 | United Arab Emirates | Joint laxity; Multiple joint dislocation; Short stature; Bicuspid aortic valve; Mitral valve prolapse; Patent foramen ovale; Aortic root aneurysm; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | Female | Yes | Yes | Sister of 245600.2.1 |
| 245600.2.5 | United Arab Emirates | Joint laxity; Multiple joint dislocation; Short stature; Mitral valve prolapse; Patent foramen ovale; Brachycephaly; Depressed nasal bridge; Abnormally large globe; Short neck; Webbed neck; Patent foramen ovale; Mitral valve prolapse; Talipes equinovarus; Metatarsus adductus; Pes planus | Male | Yes | Yes | Brother of 245600.2.1 |