Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000082.3:c.551-1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216400.5.2 | Sudan | Failure to thrive; Bird-like facies; Intellectual disability, moderate; Primary microcephaly | Unknown | Yes | Yes | |
| 216400.5.3 | Sudan | Failure to thrive; Bird-like facies; Intellectual disability, moderate; Primary microcephaly | Unknown | Yes | Yes |