Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_130466.4:c.1622+1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 244450.1 | Saudi Arabia | Global developmental delay; Autism; Abnormal facial shape; Blepharophimosis | Male | Yes | Yes | Similarly affected sibling and cousin |