Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_181783.4:c.211C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617218.1.1 | Lebanon | Global developmental delay; Generalized hypotonia; Delayed puberty; Chiari type I malformation | Female | Yes | Yes | |
| 617218.1.3 | Lebanon | Female | Mother of 617218.1.1 | |||
| 617218.1.4 | Lebanon | Female | Father of 617218.1.1 |