Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001375405.1:c.595G>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616300.2 | Saudi Arabia | Narrow chest; Abnormal facial shape; Relative macrocephaly; Hypertelorism; Abnormal oral cavity morphology | Female | Yes |