Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005529.7:c.9970G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 224410.1 | Saudi Arabia | Neonatal respiratory distress; Prominent nose; Short stature; Microcephaly; Scoliosis | Male | Yes |