Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002241.5:c.179T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612780.1.1 | Arab | Focal-onset seizure; Global developmental delay; Delayed speech and language development; Intellectual disability; Nystagmus; Dysarthria; Brisk reflexes; Babinski sign; Limb ataxia; Gait ataxia; Dysdiadochokinesis | Female | Yes | Yes | Proband |
| 612780.1.2 | Arab | Bilateral tonic-clonic seizure; Global developmental delay; Delayed speech and language development; Brisk reflexes; Ataxia; Dysdiadochokinesis; Intellectual disability; Diffuse cerebral atrophy; Cerebellar atrophy; Cervical spinal cord atrophy | Female | Yes | Yes | Sister of 612780.1.1 |