Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_021939.4:c.831dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259450.1 | Saudi Arabia | Multiple prenatal fractures; Osteopenia; Scoliosis; Wormian bones | Male | Yes | Yes | |
| 259450.3 | Saudi Arabia | Arthrogryposis multiplex congenita; Global developmental delay; Generalized hypotonia; Macrocephaly; Metopic synostosis; Ventricular septal defect; Hearing impairment; Abnormal facial shape | Male | No | Yes |