Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002408.3:c.693del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212066.1.1 | Lebanon | Intellectual disability; Abnormal facial shape; Failure to thrive; Microcephaly; Decreased sialylated N-glycan level | Female | Yes | ||
| 212066.1.2 | Lebanon | Female | Mother of 212066.1.1 |