Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015214.2:c.1249_1891del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615033.1 | Saudi Arabia | Intellectual disability; Strabismus; Dysarthria; Constipation; Upper limb spasticity; Spastic paraplegia; Hyperreflexia; Distal muscle weakness; Thin corpus callosum; Periventricular white matter hyperintensities | Female | Yes | Yes | Has one sibling and four cousins who are similarly affecetd |