Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_198525.3:c.3331C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 200990.2 | Saudi Arabia | Macrocephaly; Syndactyly; Polydactyly; Colpocephaly; Agenesis of corpus callosum; Ventriculomegaly; Hypotonia; Craniofacial asymmetry | Female | Yes | Yes | Subject has two similarly affected brothers (one of whom is deceased) and three similarly affected deceased paternal great-uncles. |