Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080605.4:c.618C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609465.1.1 | Palestine | Congenital contracture; Abnormal anterior eye segment morphology; Generalized osteoporosis; Proximal radio-ulnar synostosis; Neonatal death | Female | Yes | Yes | Similarly affected double first-cousin reported |
| 609465.1.2 | Palestine | Congenital contracture; Abnormal anterior eye segment morphology; Generalized osteoporosis; Proximal radio-ulnar synostosis; Neonatal death | Male | Yes | Yes | Sibling of 609465.1.1 |
| 609465.1.4 | Palestine | Female | Mother of 609465.1.1 |