Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001385.2:c.1078T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 222748.1.1 | Lebanon | Abnormal circulating nucleobase concentration; Intellectual disability, severe; Abnormal facial shape; Epileptic spasm; Delayed myelination; Cerebral cortical atrophy; | Female | Yes | ||
| 222748.1.3 | Lebanon | Male | Father of 222748.1.1 | |||
| 222748.1.4 | Lebanon | Male | Maternal grandfather of 222748.1.1 |