Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005932.4:c.1027A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617622.1.1 | Saudi Arabia | Global developmental delay; Apnea; Tachypnea; Ptosis; Abnormality of eye movement | Male | Proband | ||
| 617622.1.3 | Saudi Arabia | Female | No | Healthy mother of the proband |