Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000342.4:c.2573C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611590.1.1 | Oman | Splenomegaly; Failure to thrive; Nephrocalcinosis; Bilateral conductive hearing impairment | Female | Yes | Yes |