Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001080510.5:c.169_172del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615942.1.1 | Yemen | Intellectual disability, severe; Autistic behavior; Focal-onset seizure; Abnormal facial shape; Hydrocephalus | Male | Yes | Yes | Large family, spread over UAE and Saudi Arabia |
| 615942.1.2 | Yemen | Intellectual disability, moderate; Generalized myoclonic-tonic-clonic seizure; Abnormal facial shape; Shawl scrotum | Male | Yes | Yes | Sibling of 615942.1.1 |
| 615942.1.3 | Yemen | Intellectual disability, moderate; Muscular hypotinia; Abnormal facial shape; Cleft palate; Flattened epiphysis | Female | Yes | Yes | Sibling of 615942.1.1 |
| 615942.1.4 | Yemen | Intellectual disability | Female | Yes | Yes | Second cousin of 615942.1.1 |
| 615942.1.5 | Yemen | Intellectual disability | Female | Yes | Yes | Second cousin of 615942.1.1 |
| 615942.1.6 | Yemen | Intellectual disability | Female | Yes | Yes | Second cousin of 615942.1.1 |
| 615942.1.8 | Yemen | Female | Mother 615942.1.1 | |||
| 615942.1.9 | Yemen | Male | Father 615942.1.1 | |||
| 615942.1.10 | Yemen | Female | Mother 615942.1.4 | |||
| 615942.1.11 | Yemen | Male | Father 615942.1.4 |