Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000082.3:c.551-1G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216400.1.2 | Somalia | Cutaneous photosensitivity; Progressive cerebellar ataxia; Spasticity; Hearing impairment; CNS demyelination; Peripheral demyelination; Bilateral intracerebral calcifications; | Unknown | Yes | Yes | Sibling of 216400.1.1 |