Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000486.6:c.377C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125800.1.1 | United Arab Emirates | Failure to thrive in infancy; Vomiting; Hypernatremic dehydration; Polyuria; Irritability | Female | Yes | Yes | The patient also had two paternal uncles with nephrogenic diabetes insipidus |