Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001211.6:c.2441G>A | 1 | |||
| NM_018249.6:c.412G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610329.1.1 | United Arab Emirates | Global developmental delay; Hypotonia; Opisthotonus; Microcephaly; Failure to thrive; Hyperintensity of cerebral white matter on MRI; Cerebral cortical atrophy | Unknown |