Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000100.4:c.-210CCCCGCCCCGCG[(2_3)] | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 254800.1.2 | United Arab Emirates | Intellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; Ataxia | Female | Yes | Yes | Sister of 254800.1.1 |
| 254800.1.3 | United Arab Emirates | Intellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; Ataxia | Female | Yes | Yes | Sister of 254800.1.1 |
| 254800.1.4 | United Arab Emirates | Intellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; Ataxia | Male | Yes | Yes | Brother of 254800.1.1 |
| 254800.1.5 | United Arab Emirates | Intellectual disability, borderline; Morning myoclonic jerks; Bilateral tonic-clonic seizure; Dysarthria; Ataxia | Male | Yes | Yes | Brother of 254800.1.1 |
| 254800.1.6 | United Arab Emirates | Male | Father of 254800.1.1 | |||
| 254800.1.7 | United Arab Emirates | Female | Mother of 254800.1.1 |