Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001197104.1:c.10881_10884del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 605130.2 | United Arab Emirates | Short stature; Abnormal facial shape; Delayed speech and language development; Failure to thrive; Horseshoe kidney | Male | No | No | de novo mutation |