Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001013839.4:c.809-2A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619072.1.2 | United Arab Emirates | Death in infancy; Arthrogryposis multiplex congenita; Seizure; Brain atrophy | Female | Yes | Yes | Sister of 619072.1.1 |