Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_153704.6:c.739C>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610688.1 | Saudi Arabia | Global developmental delay; Hearing impairment; Molar tooth sign on MRI | Female | Yes |