Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001854.3:c.2702G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228520.4.2 | Saudi Arabia | Global Developmental delay; Short stature; Hearing impairment; Abnormal facial shape | Male | Yes | Yes | Relative of 228520.4.1 |