Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000208.4:c.421C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 262190.1.1 | United Arab Emirates | Short stature; Coarse facial features; Global developmental delay; Nephrocalcinosis; Insulin-resistant diabetes mellitus; Acanthosis nigricans; Hyperkeratosis | Male | Yes | ||
| 262190.1.3 | United Arab Emirates | Female | Mother of 262190.1.1 |