Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001015877.1:c.2T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 301900.2 | Lebanon | Abnormal facial shape; Global developmental delay; Hypotonia | Male | Yes | No | Cousin with autism |