Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002887.3:c.1316C>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616140.1.2 | United Arab Emirates | Severe global developmental delay; Visual impairment; Seizure; Microcephaly; Hypotonia; Intellectual disability | Male | Yes |