Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_007055.4:c.2003+18G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614258.1.1 | Syria | Agenesis of permanent teeth; Dysarthria; Intention tremor; Leukodystrophy | Male | Yes | Yes | |
| 614258.1.2 | Syria | Agenesis of permanent teeth; Dysarthria; Intention tremor; Leukodystrophy | Female | Yes | Yes | Sibling of 614258.1.1 |
| 614258.1.3 | Syria | Agenesis of permanent teeth; Dysarthria; Intention tremor; Leukodystrophy | Female | Yes | Yes | Sibling of 614258.1.1 |
| 614258.1.5 | Syria | Agenesis of permanent teeth; Dysarthria; Intention tremor; Leukodystrophy | Male | Yes | Yes | First cousin of 614258.1.1 |
| 614258.1.6 | Syria | Agenesis of permanent teeth; Dysarthria; Intention tremor; Leukodystrophy | Male | Yes | Yes | First cousin of 614258.1.1 |
| 614258.1.7 | Syria | Male | Father of 614258.1.1 | |||
| 614258.1.8 | Syria | Female | Mother of 614258.1.1 |