Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001015877.1:c.391C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 301900.1 | United Arab Emirates | Global developmental delay; Short stature; Abnormal facial shape; Gynecomastia; Micropenis; Decreased testicular size | Male | No | Mother showed random pattern of X‐inactivation |