Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000489.6:c.5666T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 301040.1.1 | Yemen | Global developmental delay; Delayed speech and language development; Finger clinodactyly; Cerebral cortical atrophy; Abnormal facial shape | Male | Yes | Yes | |
| 301040.1.3 | Yemen | Female | Mother of 301040.1.1; X-Chromosome with mutation found to be preferentially activated (80%) |