Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004750.5:c.527+5G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272430.1.1 | United Arab Emirates | Abnormal facial shape; Camptodactyly; Poor suck; Dysphagia | Female | No | Yes | |
| 272430.1.3 | United Arab Emirates | Female | No | Mother of 272430.1.1 |