Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_173630.4:c.5746-20A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614833.1.1 | Saudi Arabia | Hyperpigmentation of the skin; Protruding ear; Prominent nose; Hyperplasia of the maxilla | Male | Yes | Yes |