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 | |
614258.1.3 | Syria | Agenesis of permanent teeth; Dysarthria; Intention tremor; Leukodystrophy | Female | Yes | Yes | Sibling of 614258.1.1 |
614258.1.4 | 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 |