Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003718.5:c.2134G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617360.1 | United Arab Emirates | Microcephaly; Strabismus; Visual impairment; Delayed speech and language development; Intellectual disability; Severe muscular hypotonia; Global developmental delay; Motor delay; Failure to thrive; Abnormal cerebral white matter morphology; Cerebral hypomyelination | Female | Patient had dual diagnosis of CHDFIDD and Rett syndrome. |