Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.301G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.6.1 | Iraq | Seizure; Coma; Hypotonia; Muscle weakness; Delayed speech and language development | Female | Yes | Yes | Patient belongs to a family of Iraqi-Jewish origin |
| 231670.6.3 | Iraq | Male | Yes | Father of 231670.6.1 | ||
| 231670.6.4 | Iraq | Female | Yes | Mother of 231670.6.1 |