Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000396.4:c.244-29A>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 265800.1.2 | Saudi Arabia | Osteopetrosis; Short stature; Deviated nasal septum; Abnormality of the dentition | Female | Yes | Yes | Relative of 265800.1.1 |