Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004425.4:c.121+1G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 247100.1.1 | Lebanon | Hoarse voice ; Skin-colored papule ; Hyperkeratotic papule ; Difficulty in tongue movements ; Abnormal oral frenulum morphology | Female | Yes | Yes | The patient also had two cousins with similar symptoms |