Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017668.3:c.658C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614019.2.1 | Saudi Arabia | Agenesis of corpus callosum; Colpocephaly; Global developmental delay; Delayed speech and language development; Craniosynostosis; Abnormality of the anterior fontanelle; Hyporeflexia | Female | Yes | Yes | |
| 614019.2.2 | Saudi Arabia | Male | Yes | Yes | Relative of 614019.2.1 |