Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024312.4:c.3503_3504del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 252500.2 | United Arab Emirates | Infantile onset | ||||
| 252500.3 | United Arab Emirates | Skeletal dysplasia; Proptosis; Short neck; Thoracic hypoplasia; Congenital bilateral hip dislocation | Male | Yes | Yes | |
| 252500.4 | United Arab Emirates | Recurrent fractures; Neonatal hypotonia; Recurrent lower respiratory tract infections | Female | Yes |