Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020751.3:c.1167-24A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614576.2 | United Arab Emirates | Failure to thrive; Global developmental delay; Hiatus hernia; Congenital diaphragmatic hernia; Pulmonary hypoplasia; Abnormal gastrointestinal motility; Intestinal obstruction | Male |