Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001352754.2:c.51+5G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617622.4 | Saudi Arabia | Delayed gross motor development; Molar tooth sign on MRI; Hypotonia | Male |