Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001159773.2:c.902_906dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251450.4.1 | Saudi Arabia | Short long bone; Intrauterine growth retardation; Polyhydramnios; Narrow chest | Male | Yes | Yes |