Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022166.3:c.2169dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615777.1 | United Arab Emirates | Short long bone; Monkey wrench femoral neck; Flat face; Depressed nasal bridge; Long philtrum; Smooth philtrum; Distal joint laxity; Hyperlordosis | Male | Yes | Yes | Patient had a stillborn sibling with a similar phenotype |
| 615777.1.3 | United Arab Emirates | Female | Mother of 615777.1.1 |