Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017653.6:c.610C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 223800.8.2 | Egypt | Short stature; Microcephaly; Generalized hypotonia; Brisk reflexes; Intellectual disability | Male | Yes | Yes | Relative of 223800.8.1 |