Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_033419.5:c.851A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615716.1 | United Arab Emirates | Hypoglycemia; Feeding difficulties in infancy; Bifid uvula; Recurrent infections; Seizure precipitated by febrile infection | Male | Yes | Yes | |
| 615716.3 | United Arab Emirates | Megalocornea; Global developmental delay; Buphthalmos; Overfolded helix; Micrognathia | Female | Yes | Yes |