Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017653.6:c.302G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 223801.13 | Egypt | Intellectual disability; Abnormality of the vertebral column; Failure to thrive; Microcephaly | Female | Yes | ||
| 223801.15 | Egypt | Intellectual disability; Abnormality of the vertebral column; Failure to thrive; Microcephaly | Male | Yes | Yes | |
| 223801.16 | Egypt | Failure to thrive; Profound global developmental delay; Coarse facial features | Female | Yes | Yes | |
| 223801.17 | Egypt | Intellectual disability; Abnormality of the vertebral column; Failure to thrive; Microcephaly | Female | Yes |