Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001350748.2:c.1489del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615419.2.2 | Saudi Arabia | Absent speech; Severe muscular hypotonia; Chronic constipation; Global developmental delay | Male | Yes | Yes | Sibling of 615419.2.1 |
| 615419.2.3 | Saudi Arabia | Absent speech; Severe muscular hypotonia; Chronic constipation; Global developmental delay | Male | Yes | Yes | First cousin once removed of 615419.2.1 |
| 615419.2.4 | Saudi Arabia | Male | Father of 615419.2.1 | |||
| 615419.2.5 | Saudi Arabia | Female | Mother of 615419.2.1 | |||
| 615419.2.6 | Saudi Arabia | Male | Father of 615419.2.3 | |||
| 615419.2.7 | Saudi Arabia | Male | Mother of 615419.2.3 |