Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_145698.4:c.626-689_937-234delins936+1075_c.936+1230inv | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618863.2 | United Arab Emirates | Cleft palate; Rod-cone dystrophy; Progressive microcephaly; Dysarthria; Delayed speech and language development; Abnormal facial shape; Cerebral hypomyelination; Gait imbalance | Female | No | Yes |