Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001350748.2:c.3947G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615419.3.1 | Saudi Arabia | Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | Female | Yes | Yes | |
| 615419.3.3 | Saudi Arabia | Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | Female | Yes | Yes | Sibling of 615419.3.1 |
| 615419.3.4 | Saudi Arabia | Female | Mother of 615419.3.1 | |||
| 615419.3.5 | Saudi Arabia | Male | Father of 615419.3.1 |