Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017653.6:c.1365+3_1365+10del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 223800.9.2 | Egypt | Failure to thrive; Intellectual disability | Male | Yes | Yes | Relative of 223800.9.1 |