Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001044385.3:c.869+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614424.1 | Saudi Arabia | Molar tooth sign on MRI; Hypotonia; Intellectual disability | Unknown | No | Patient from 'MTI_131' family in the publication |