Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001199397.3:c.1690_1691del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 263520.1.2 | Saudi Arabia | Short stature; Global developmental delay; Decreased circulating calcifediol concentration; Periventricular leukomalacia | Male | Yes | Yes | Relative of 263520.1.1 |